S29R (p.Ser29Arg) variant of EDN1 (Endothelin-1)
S29R (p.Ser29Arg) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S29R (p.Ser29Arg) variant details
- p.Ser29Arg
- Ensembl rs1762705425
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.39
- MetaLR 0.48
- MetaSVM -0.24
- CADD 23.60
- PolyPhen-2 0.80
- SIFT 0.14
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available