E37G (p.Glu37Gly) variant of EDN1 (Endothelin-1)
E37G (p.Glu37Gly) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
E37G (p.Glu37Gly) variant details
- p.Glu37Gly
- ExAC rs778827439
- gnomAD rs778827439
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.18
- MetaLR 0.26
- MetaSVM -0.88
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available