R139I (p.Arg139Ile) variant of F11 (Coagulation factor XI)
R139I (p.Arg139Ile) in F11 (Coagulation factor XI) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
R139I (p.Arg139Ile) variant details
- p.Arg139Ile
- ExAC rs779556113
- gnomAD rs779556113
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.64
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.77
- MetaSVM 0.66
- CADD 22.50
- Population evidence available
- Structural context available