E78K (p.Glu78Lys) variant of EDN1 (Endothelin-1)
E78K (p.Glu78Lys) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
E78K (p.Glu78Lys) variant details
- p.Glu78Lys
- gnomAD 6-12292508-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.67
- CADD 32.00
- PolyPhen-2 0.61
- SIFT 0.01
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available