R172Q (p.Arg172Gln) variant of F12 (Coagulation factor XII)
R172Q (p.Arg172Gln) 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.
R172Q (p.Arg172Gln) variant details
- p.Arg172Gln
- rs1233536521
- gnomAD rs1233536521
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.22
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.72
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available