A22E (p.Ala22Glu) variant of EDN1 (Endothelin-1)
A22E (p.Ala22Glu) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A22E (p.Ala22Glu) variant details
- p.Ala22Glu
- 1000Genomes rs533813384
- ExAC rs533813384
- TOPMed rs533813384
- gnomAD rs533813384
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.61
- MetaLR 0.31
- MetaSVM -0.53
- CADD 7.08
- PolyPhen-2 0.36
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available