H59R (p.His59Arg) variant of F12 (Coagulation factor XII)
H59R (p.His59Arg) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
H59R (p.His59Arg) variant details
- p.His59Arg
- gnomAD rs1763281200
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.27
- CADD 23.30
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available