S42C (p.Ser42Cys) variant of EDN1 (Endothelin-1)
S42C (p.Ser42Cys) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S42C (p.Ser42Cys) variant details
- p.Ser42Cys
- 1000Genomes rs576313237
- ExAC rs576313237
- gnomAD rs576313237
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.32
- MetaLR 0.41
- MetaSVM -0.56
- CADD 18.10
- PolyPhen-2 0.53
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available