---
source: src/pbs/gnomad/vep_gnomad2.rs
expression: vep
---
allele: A
consequence: frameshift_variant
impact: HIGH
symbol: PCSK9
gene: ENSG00000169174
featureType: Transcript
feature: ENST00000452118
featureBiotype: protein_coding
exon: 4/6
hgvsc: "ENST00000452118.2:c.547_548insA"
hgvsp: "ENSP00000401598.2:p.Gly183GlufsTer23"
cdnaPosition: 627-628
cdsPosition: 547-548
proteinPosition: "183"
aminoAcids: G/EX
codons: ggc/gAgc
existingVariation: rs527413419
dbsnpId: "1"
strand: "1"
variantClass: insertion
minimised: "1"
symbolSource: HGNC
hgncId: "20001"
ensp: ENSP00000401598
trembl: B4DEZ9
uniparc: UPI00017A6F55
genePheno: "1"
gmaf: 0.0032
amrMaf: 0.0113
easMaf: 0.0014
eurMaf: 0
sasMaf: 0
aaMaf: 0
lof: HC
lofInfo: "GERP_DIST:364.1444&BP_DIST:304&PERCENTILE:0.885113268608414&DIST_FROM_LAST_EXON:210&50_BP_RULE:PASS&PHYLOCSF_TOO_SHORT"

