R49R (p.Arg49Arg) variant of EDN1 (Endothelin-1)
R49R (p.Arg49Arg) in EDN1 (Endothelin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
R49R (p.Arg49Arg) variant details
- p.Arg49Arg
- gnomAD 6-12292423-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.149
- CADD 9.62
- Population evidence available
- Structural context available
- Literature evidence available