A44S (p.Ala44Ser) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
A44S (p.Ala44Ser) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A44S (p.Ala44Ser) variant details
- p.Ala44Ser
- Ensembl rs773660398
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.11
- MetaSVM -1.05
- CADD 10.30
- Population evidence available
- Structural context available