H131Y (p.His131Tyr) variant of F5 (Coagulation factor V)
H131Y (p.His131Tyr) in F5 (Coagulation factor V) 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.
H131Y (p.His131Tyr) variant details
- p.His131Tyr
- TOPMed rs1208294600
- gnomAD rs1208294600
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.44
- CADD 22.60
- PolyPhen-2 0.42
- SIFT 0.10
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available