R48H (p.Arg48His) variant of EDN1 (Endothelin-1)
R48H (p.Arg48His) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R48H (p.Arg48His) variant details
- p.Arg48His
- ESP rs368802545
- ExAC rs368802545
- TOPMed rs368802545
- gnomAD rs368802545
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.33
- MetaLR 0.37
- MetaSVM -0.51
- CADD 21.80
- PolyPhen-2 0.03
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available