V4I (p.Val4Ile) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
V4I (p.Val4Ile) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial hypercholesterolemia; not specified; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
V4I (p.Val4Ile) variant details
- p.Val4Ile
- rs186669805
- ClinGen CA035116
- ClinVar RCV000583160
- ClinVar RCV000771578
- Conflicting interpretations
- Familial hypercholesterolemia; not specified; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.16
- MetaSVM -1.04
- CADD 6.66
- ClinVar: Conflicting classifications of pathogenicity (Familial hypercholesterolemia; not specified; Cardiovascular phe)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)