G107R (p.Gly107Arg) variant of F12 (Coagulation factor XII)
G107R (p.Gly107Arg) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
G107R (p.Gly107Arg) variant details
- p.Gly107Arg
- TOPMed rs942858184
- gnomAD rs942858184
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.71
- CADD 15.90
- PolyPhen-2 0.34
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available