A18T (p.Ala18Thr) variant of EDN1 (Endothelin-1)
A18T (p.Ala18Thr) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- ExAC rs777308856
- TOPMed rs777308856
- gnomAD rs777308856
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.24
- MetaLR 0.35
- MetaSVM -0.64
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available