C98R (p.Cys98Arg) variant of F12 (Coagulation factor XII)
C98R (p.Cys98Arg) 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.
C98R (p.Cys98Arg) variant details
- p.Cys98Arg
- gnomAD rs1287915381
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.88
- CADD 27.20
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available