H34Q (p.His34Gln) variant of F9 (Coagulation factor IX)
H34Q (p.His34Gln) in F9 (Coagulation factor IX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
H34Q (p.His34Gln) variant details
- p.His34Gln
- gnomAD X-139537023-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.26
- MetaLR 0.36
- MetaSVM -0.68
- CADD 1.55
- PolyPhen-2 0.00
- SIFT 0.46
- Population evidence available
- Structural context available
- Literature evidence available