V4L (p.Val4Leu) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
V4L (p.Val4Leu) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hypercholesterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V4L (p.Val4Leu) variant details
- p.Val4Leu
- rs186669805
- ClinGen CA340482598
- ClinVar RCV001179974
- 1000Genomes rs186669805
- Uncertain significance
- Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.16
- MetaSVM -1.04
- PolyPhen-2 0.32
- SIFT 0.27
- ClinVar: Uncertain significance (Familial hypercholesterolemia)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)