G24D (p.Gly24Asp) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
G24D (p.Gly24Asp) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G24D (p.Gly24Asp) variant details
- p.Gly24Asp
- gnomAD 1-55039908-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.06
- ESM-1b 0.80
- AlphaMissense 0.15
- MetaLR 0.16
- MetaSVM -0.96
- CADD 21.10
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- Literature evidence available