C15S (p.Cys15Ser) variant of EDN1 (Endothelin-1)
C15S (p.Cys15Ser) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
C15S (p.Cys15Ser) variant details
- p.Cys15Ser
- ExAC rs73722760
- gnomAD rs73722760
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.18
- MetaLR 0.13
- MetaSVM -1.00
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.38
- Population evidence available
- Structural context available