D33H (p.Asp33His) variant of F9 (Coagulation factor IX)
D33H (p.Asp33His) in F9 (Coagulation factor IX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
D33H (p.Asp33His) variant details
- p.Asp33His
- Ensembl rs2148356001
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.64
- MetaLR 0.70
- MetaSVM 0.06
- CADD 21.30
- PolyPhen-2 0.06
- SIFT 0.07
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available