A44D (p.Ala44Asp) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
A44D (p.Ala44Asp) 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.
A44D (p.Ala44Asp) variant details
- p.Ala44Asp
- gnomAD 1-55039968-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.18
- MetaSVM -0.89
- CADD 18.50
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Literature evidence available