A44V (p.Ala44Val) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
A44V (p.Ala44Val) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A44V (p.Ala44Val) variant details
- p.Ala44Val
- gnomAD 1-55039968-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.17
- MetaSVM -0.88
- CADD 22.30
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available
- Literature evidence available