V80D (p.Val80Asp) variant of EDN1 (Endothelin-1)
V80D (p.Val80Asp) 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.
V80D (p.Val80Asp) variant details
- p.Val80Asp
- gnomAD rs1191532177
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.58
- MetaLR 0.34
- MetaSVM -0.22
- CADD 24.40
- PolyPhen-2 0.36
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available