G35D (p.Gly35Asp) variant of EDN1 (Endothelin-1)
G35D (p.Gly35Asp) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
G35D (p.Gly35Asp) variant details
- p.Gly35Asp
- gnomAD 6-12292380-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.26
- CADD 8.70
- PolyPhen-2 0.21
- SIFT 0.15
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available