S57T (p.Ser57Thr) variant of EDN1 (Endothelin-1)
S57T (p.Ser57Thr) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S57T (p.Ser57Thr) variant details
- p.Ser57Thr
- gnomAD 6-12292445-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.40
- CADD 23.00
- PolyPhen-2 0.86
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available