L8R (p.Leu8Arg) variant of F7 (Coagulation factor VII)
L8R (p.Leu8Arg) in F7 (Coagulation factor VII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L8R (p.Leu8Arg) variant details
- p.Leu8Arg
- gnomAD 13-113105864-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.34
- MetaLR 0.72
- MetaSVM 0.00
- CADD 22.50
- PolyPhen-2 0.80
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available