H42Y (p.His42Tyr) variant of F7 (Coagulation factor VII)
H42Y (p.His42Tyr) in F7 (Coagulation factor VII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
H42Y (p.His42Tyr) variant details
- p.His42Tyr
- rs376971927
- gnomAD 13-113110713-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.26
- MetaLR 0.74
- MetaSVM 0.08
- CADD 21.80
- PolyPhen-2 0.66
- SIFT 0.28
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available