R46G (p.Arg46Gly) variant of EDN1 (Endothelin-1)
R46G (p.Arg46Gly) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R46G (p.Arg46Gly) variant details
- p.Arg46Gly
- ESP rs200759992
- ExAC rs200759992
- TOPMed rs200759992
- gnomAD rs200759992
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.47
- MetaLR 0.37
- MetaSVM -0.10
- CADD 9.41
- SIFT 0.11
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available