G24A (p.Gly24Ala) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
G24A (p.Gly24Ala) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
G24A (p.Gly24Ala) variant details
- p.Gly24Ala
- gnomAD rs1183261419
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.15
- MetaSVM -0.99
- CADD 15.50
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available