A26P (p.Ala26Pro) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
A26P (p.Ala26Pro) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A26P (p.Ala26Pro) variant details
- p.Ala26Pro
- gnomAD 1-55039913-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.13
- MetaSVM -0.99
- CADD 13.60
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available
- Literature evidence available