K61E (p.Lys61Glu) variant of EDN1 (Endothelin-1)
K61E (p.Lys61Glu) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
K61E (p.Lys61Glu) variant details
- p.Lys61Glu
- gnomAD 6-12292457-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.59
- CADD 24.90
- PolyPhen-2 0.64
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available