A30A (p.Ala30Ala) variant of EDN1 (Endothelin-1)
A30A (p.Ala30Ala) in EDN1 (Endothelin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A30A (p.Ala30Ala) variant details
- p.Ala30Ala
- rs150035515
- gnomAD 6-12292366-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0844
- CADD 0.53
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available