G17R (p.Gly17Arg) variant of EDN1 (Endothelin-1)
G17R (p.Gly17Arg) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
G17R (p.Gly17Arg) variant details
- p.Gly17Arg
- ExAC rs780635071
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.81
- MetaLR 0.79
- MetaSVM 0.68
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available