H147R (p.His147Arg) variant of F11 (Coagulation factor XI)
H147R (p.His147Arg) in F11 (Coagulation factor XI) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes structural context.
H147R (p.His147Arg) variant details
- p.His147Arg
- Ensembl rs2126731280
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.62
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.68
- MetaSVM 0.42
- CADD 20.20
- Structural context available