R154M (p.Arg154Met) variant of F11 (Coagulation factor XI)
R154M (p.Arg154Met) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar 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 0.35 / 1. The record also includes population frequency data and structural context.
R154M (p.Arg154Met) variant details
- p.Arg154Met
- cosmic curated COSV11290
- ESP rs369850780
- ExAC rs369850780
- TOPMed rs369850780
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.55
- MetaSVM -0.25
- CADD 16.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available