A44G (p.Ala44Gly) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
A44G (p.Ala44Gly) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A44G (p.Ala44Gly) variant details
- p.Ala44Gly
- Ensembl rs1644585825
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.17
- MetaSVM -0.95
- CADD 18.40
- Population evidence available
- Structural context available