---
source: src/gnomad_nuclear/pbs.rs
expression: vep
---
allele: G
consequence: missense_variant
impact: MODERATE
symbol: PCSK9
gene: ENSG00000169174
feature_type: Transcript
feature: ENST00000302118
feature_biotype: protein_coding
exon: 1/12
intron: ~
hgvsc: "ENST00000302118.5:c.89C>G"
hgvsp: "ENSP00000303208.5:p.Ala30Gly"
cdna_position: "379"
cds_position: "89"
protein_position: "30"
amino_acids: A/G
codons: gCg/gGg
existing_variation: ~
dbsnp_id: "1"
distance: ~
strand: "1"
flags: ~
variant_class: SNV
minimised: "1"
symbol_source: HGNC
hgnc_id: "20001"
canonical: true
tsl: ~
appris: ~
ccds: CCDS603.1
ensp: ENSP00000303208
swissprot: Q8NBP7
trembl: ~
uniparc: UPI00001615E1
gene_pheno: "1"
sift:
  prediction: deleterious_low_confidence
  score: 0.03
polyphen:
  prediction: possibly_damaging
  score: 0.583
domains:
  - id: SignalP-noTM
    source: Cleavage_site_(Signalp)
  - id: PTHR10795
    source: hmmpanther
  - id: PTHR10795
    source: hmmpanther
hgvs_offset: ~
gmaf: ~
afr_maf: ~
amr_maf: ~
eas_maf: ~
eur_maf: ~
sas_maf: ~
aa_maf: ~
ea_maf: ~
exac_maf: ~
exac_adj_maf: ~
exac_afr_maf: ~
exac_amr_maf: ~
exac_eas_maf: ~
exac_fin_maf: ~
exac_nfe_maf: ~
exac_oth_maf: ~
exac_sas_maf: ~
clin_sig: ~
somatic: ~
pheno: ~
pubmed: ~
motif_name: ~
motif_pos: ~
high_inf_pos: ~
motif_score_change: ~
lof: ~
lof_filter: ~
lof_flags: ~
lof_info: "DE_NOVO_DONOR_PROB:0.146539915246404&MUTANT_DONOR_MES:8.16693067332728&DE_NOVO_DONOR_POS:-119&INTRON_END:55509515&DE_NOVO_DONOR_MES_POS:-122&INTRON_START:55505718&EXON_END:55505717&EXON_START:55505221&DE_NOVO_DONOR_MES:-1.61109392005567"

