A14P (p.Ala14Pro) variant of EDN1 (Endothelin-1)
A14P (p.Ala14Pro) 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.
A14P (p.Ala14Pro) variant details
- p.Ala14Pro
- gnomAD 6-12290669-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.61
- MetaLR 0.35
- MetaSVM -0.69
- CADD 19.50
- PolyPhen-2 0.36
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available