D35H (p.Asp35His) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
D35H (p.Asp35His) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
D35H (p.Asp35His) variant details
- p.Asp35His
- gnomAD 1-55039940-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.19
- ESM-1b 0.54
- AlphaMissense 0.18
- MetaLR 0.24
- MetaSVM -0.56
- CADD 23.60
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Literature evidence available