K61N (p.Lys61Asn) variant of EDN1 (Endothelin-1)
K61N (p.Lys61Asn) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
K61N (p.Lys61Asn) variant details
- p.Lys61Asn
- gnomAD 6-12292459-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.61
- CADD 24.80
- PolyPhen-2 0.83
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available