S9C (p.Ser9Cys) variant of EDN1 (Endothelin-1)
S9C (p.Ser9Cys) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S9C (p.Ser9Cys) variant details
- p.Ser9Cys
- TOPMed rs1459410291
- gnomAD rs1459410291
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.43
- MetaLR 0.44
- MetaSVM -0.38
- CADD 22.30
- PolyPhen-2 0.63
- SIFT 0.13
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available