D37N (p.Asp37Asn) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
D37N (p.Asp37Asn) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
D37N (p.Asp37Asn) variant details
- p.Asp37Asn
- gnomAD 1-55039946-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.14
- ESM-1b 0.01
- AlphaMissense 0.11
- MetaLR 0.19
- MetaSVM -0.75
- CADD 22.70
- Population evidence available
- Structural context available
- Literature evidence available