G2V (p.Gly2Val) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
G2V (p.Gly2Val) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G2V (p.Gly2Val) variant details
- p.Gly2Val
- gnomAD 1-55039842-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.28
- MetaSVM -0.75
- CADD 24.10
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available
- Literature evidence available