C15W (p.Cys15Trp) variant of EDN1 (Endothelin-1)
C15W (p.Cys15Trp) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
C15W (p.Cys15Trp) variant details
- p.Cys15Trp
- ExAC rs751638434
- gnomAD rs751638434
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.23
- MetaLR 0.18
- MetaSVM -0.79
- CADD 23.20
- PolyPhen-2 0.08
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available