R48G (p.Arg48Gly) variant of EDN1 (Endothelin-1)
R48G (p.Arg48Gly) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R48G (p.Arg48Gly) variant details
- p.Arg48Gly
- gnomAD 6-12292418-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.47
- CADD 26.60
- PolyPhen-2 0.84
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available