G165R (p.Gly165Arg) variant of F12 (Coagulation factor XII)
G165R (p.Gly165Arg) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
G165R (p.Gly165Arg) variant details
- p.Gly165Arg
- TOPMed rs1037059491
- gnomAD rs1037059491
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.61
- CADD 22.60
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available