M48R (p.Met48Arg) variant of F10 (Coagulation factor X)
M48R (p.Met48Arg) 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.
M48R (p.Met48Arg) variant details
- p.Met48Arg
- gnomAD 13-113129524-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.44
- MetaLR 0.94
- MetaSVM 0.61
- CADD 22.60
- PolyPhen-2 0.64
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available