H101Y (p.His101Tyr) variant of F12 (Coagulation factor XII)
H101Y (p.His101Tyr) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
H101Y (p.His101Tyr) variant details
- p.His101Tyr
- TOPMed rs1193532832
- gnomAD rs1193532832
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.44
- CADD 23.70
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available