M59T (p.Met59Thr) variant of EDN1 (Endothelin-1)
M59T (p.Met59Thr) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
M59T (p.Met59Thr) variant details
- p.Met59Thr
- gnomAD 6-12292452-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.56
- CADD 25.90
- PolyPhen-2 0.85
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available