H54Y (p.His54Tyr) variant of F12 (Coagulation factor XII)
H54Y (p.His54Tyr) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
H54Y (p.His54Tyr) variant details
- p.His54Tyr
- ExAC rs760763660
- gnomAD rs760763660
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.07
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available