G17E (p.Gly17Glu) variant of EDN1 (Endothelin-1)
G17E (p.Gly17Glu) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
G17E (p.Gly17Glu) variant details
- p.Gly17Glu
- ExAC rs755489890
- gnomAD rs755489890
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.80
- MetaLR 0.76
- MetaSVM 0.60
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available