W73R (p.Trp73Arg) variant of F11 (Coagulation factor XI)
W73R (p.Trp73Arg) 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 Inborn genetic diseases. 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.
W73R (p.Trp73Arg) variant details
- p.Trp73Arg
- TOPMed rs896571623
- gnomAD rs896571623
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.27
- MetaLR 0.32
- MetaSVM -0.57
- CADD 15.40
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available