R84Q (p.Arg84Gln) variant of F12 (Coagulation factor XII)
R84Q (p.Arg84Gln) 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 0.09 / 1. The record also includes population frequency data and structural context.
R84Q (p.Arg84Gln) variant details
- p.Arg84Gln
- rs141155093
- ESP rs141155093
- ExAC rs141155093
- TOPMed rs141155093
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.095
- REVEL 0.11
- CADD 0.46
- PolyPhen-2 0.00
- SIFT 0.77
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available