---
source: src/pbs/gnomad/vep_gnomad2.rs
expression: vep
---
allele: G
consequence: missense_variant
impact: MODERATE
symbol: PCSK9
gene: ENSG00000169174
featureType: Transcript
feature: ENST00000302118
featureBiotype: protein_coding
exon: 1/12
hgvsc: "ENST00000302118.5:c.89C>G"
hgvsp: "ENSP00000303208.5:p.Ala30Gly"
cdnaPosition: "379"
cdsPosition: "89"
proteinPosition: "30"
aminoAcids: A/G
codons: gCg/gGg
dbsnpId: "1"
strand: "1"
variantClass: SNV
minimised: "1"
symbolSource: HGNC
hgncId: "20001"
canonical: true
ccds: CCDS603.1
ensp: ENSP00000303208
swissprot: Q8NBP7
uniparc: UPI00001615E1
genePheno: "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
lofInfo: "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"

