A18S (p.Ala18Ser) variant of EDN1 (Endothelin-1)
A18S (p.Ala18Ser) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- ExAC rs777308856
- TOPMed rs777308856
- gnomAD rs777308856
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.32
- MetaLR 0.36
- MetaSVM -0.55
- CADD 22.20
- PolyPhen-2 0.19
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available