H79Y (p.His79Tyr) variant of EDN1 (Endothelin-1)
H79Y (p.His79Tyr) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
H79Y (p.His79Tyr) variant details
- p.His79Tyr
- ExAC rs774749384
- gnomAD rs774749384
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.45
- MetaLR 0.51
- MetaSVM -0.20
- CADD 25.10
- PolyPhen-2 0.56
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available