A27V (p.Ala27Val) variant of F7 (Coagulation factor VII)
A27V (p.Ala27Val) in F7 (Coagulation factor VII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- gnomAD 13-113110711-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.72
- MetaLR 0.86
- MetaSVM 0.93
- CADD 24.80
- PolyPhen-2 0.74
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available