C46R (p.Cys46Arg) variant of F11 (Coagulation factor XI)
C46R (p.Cys46Arg) in F11 (Coagulation factor XI) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
C46R (p.Cys46Arg) variant details
- p.Cys46Arg
- gnomAD rs1739969361
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 1.00
- MetaSVM 0.91
- CADD 23.90
- Structural context available