G127R (p.Gly127Arg) variant of F12 (Coagulation factor XII)
G127R (p.Gly127Arg) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
G127R (p.Gly127Arg) variant details
- p.Gly127Arg
- TOPMed rs1763264866
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.79
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available