A26S (p.Ala26Ser) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
A26S (p.Ala26Ser) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A26S (p.Ala26Ser) variant details
- p.Ala26Ser
- gnomAD 1-55039913-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.14
- MetaSVM -1.00
- CADD 5.59
- Population evidence available
- Structural context available
- Literature evidence available