L32H (p.Leu32His) variant of F9 (Coagulation factor IX)
L32H (p.Leu32His) in F9 (Coagulation factor IX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
L32H (p.Leu32His) variant details
- p.Leu32His
- gnomAD X-139537016-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.78
- MetaLR 0.89
- MetaSVM 0.97
- CADD 25.60
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available