H48Y (p.His48Tyr) variant of F12 (Coagulation factor XII)
H48Y (p.His48Tyr) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
H48Y (p.His48Tyr) variant details
- p.His48Tyr
- ExAC rs757688378
- gnomAD rs757688378
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.07
- CADD 16.50
- PolyPhen-2 0.03
- SIFT 0.23
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available