R179H (p.Arg179His) variant of F12 (Coagulation factor XII)
R179H (p.Arg179His) in F12 (Coagulation factor XII) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R179H (p.Arg179His) variant details
- p.Arg179His
- rs1477816023
- gnomAD rs1477816023
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.19
- CADD 3.72
- PolyPhen-2 0.01
- SIFT 0.55
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available