R91W (p.Arg91Trp) variant of F11 (Coagulation factor XI)
R91W (p.Arg91Trp) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Plasma factor XI deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes structural context.
R91W (p.Arg91Trp) variant details
- p.Arg91Trp
- gnomAD rs1348710177
- Uncertain significance
- Plasma factor XI deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.42
- ESM-1b 0.87
- AlphaMissense 0.12
- MetaLR 0.61
- MetaSVM -0.21
- CADD 19.66
- ClinVar: Uncertain significance (Plasma factor XI deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available