D37G (p.Asp37Gly) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
D37G (p.Asp37Gly) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
D37G (p.Asp37Gly) variant details
- p.Asp37Gly
- gnomAD 1-55039947-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.17
- MetaSVM -0.94
- CADD 21.50
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available
- Literature evidence available