K51N (p.Lys51Asn) variant of EDN1 (Endothelin-1)
K51N (p.Lys51Asn) 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.
K51N (p.Lys51Asn) variant details
- p.Lys51Asn
- gnomAD 6-12292429-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.74
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available