H118R (p.His118Arg) variant of F12 (Coagulation factor XII)
H118R (p.His118Arg) 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.
H118R (p.His118Arg) variant details
- p.His118Arg
- rs1192778187
- TOPMed rs1192778187
- gnomAD rs1192778187
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.17
- CADD 9.42
- PolyPhen-2 0.04
- SIFT 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available