R48L (p.Arg48Leu) variant of EDN1 (Endothelin-1)
R48L (p.Arg48Leu) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R48L (p.Arg48Leu) variant details
- p.Arg48Leu
- ESP rs368802545
- ExAC rs368802545
- TOPMed rs368802545
- gnomAD rs368802545
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.58
- MetaLR 0.59
- MetaSVM 0.07
- CADD 24.80
- PolyPhen-2 0.84
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available