V64I (p.Val64Ile) variant of EDN1 (Endothelin-1)
V64I (p.Val64Ile) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
V64I (p.Val64Ile) variant details
- p.Val64Ile
- gnomAD 6-12292466-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.47
- CADD 28.00
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available