R52S (p.Arg52Ser) variant of EDN1 (Endothelin-1)
R52S (p.Arg52Ser) 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, published literature, and structural context.
R52S (p.Arg52Ser) variant details
- p.Arg52Ser
- gnomAD 6-12292430-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.81
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available