R172W (p.Arg172Trp) variant of F12 (Coagulation factor XII)
R172W (p.Arg172Trp) in F12 (Coagulation factor XII) 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 0.26 / 1. The record also includes population frequency data and structural context.
R172W (p.Arg172Trp) variant details
- p.Arg172Trp
- ExAC rs761084613
- TOPMed rs761084613
- gnomAD rs761084613
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.23
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available