Y70H (p.Tyr70His) variant of F13A1 (Coagulation factor XIII A chain)
Y70H (p.Tyr70His) in F13A1 (Coagulation factor XIII A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
Y70H (p.Tyr70His) variant details
- p.Tyr70His
- TOPMed rs1758499970
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.79
- MetaLR 0.76
- MetaSVM 0.70
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available