A26S (p.Ala26Ser) variant of EDN1 (Endothelin-1)
A26S (p.Ala26Ser) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A26S (p.Ala26Ser) variant details
- p.Ala26Ser
- TOPMed rs1367007262
- gnomAD rs1367007262
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.29
- MetaLR 0.30
- MetaSVM -0.74
- CADD 11.30
- PolyPhen-2 0.21
- SIFT 0.30
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available