P39T (p.Pro39Thr) variant of EDN1 (Endothelin-1)
P39T (p.Pro39Thr) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P39T (p.Pro39Thr) variant details
- p.Pro39Thr
- ExAC rs772178393
- gnomAD rs772178393
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.12
- MetaLR 0.30
- MetaSVM -0.67
- CADD 6.39
- PolyPhen-2 0.02
- SIFT 0.10
- Population evidence available
- Structural context available