R72L (p.Arg72Leu) variant of F11 (Coagulation factor XI)
R72L (p.Arg72Leu) in F11 (Coagulation factor XI) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R72L (p.Arg72Leu) variant details
- p.Arg72Leu
- 1000Genomes rs567451638
- ExAC rs567451638
- TOPMed rs567451638
- gnomAD rs567451638
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.21
- ESM-1b 0.55
- AlphaMissense 0.09
- MetaLR 0.67
- MetaSVM -0.12
- CADD 11.07
- Population evidence available
- Structural context available