C61R (p.Cys61Arg) variant of F12 (Coagulation factor XII)
C61R (p.Cys61Arg) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
C61R (p.Cys61Arg) variant details
- p.Cys61Arg
- ExAC rs769697091
- gnomAD rs769697091
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.74
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available