H34L (p.His34Leu) variant of F9 (Coagulation factor IX)
H34L (p.His34Leu) in F9 (Coagulation factor IX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
H34L (p.His34Leu) variant details
- p.His34Leu
- gnomAD X-139537022-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.30
- MetaLR 0.55
- MetaSVM -0.54
- CADD 0.55
- PolyPhen-2 0.01
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available