H52R (p.His52Arg) variant of F10 (Coagulation factor X)
H52R (p.His52Arg) in F10 (Coagulation factor X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
H52R (p.His52Arg) variant details
- p.His52Arg
- gnomAD 13-113129536-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.46
- MetaLR 0.89
- MetaSVM 0.66
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available