R49P (p.Arg49Pro) variant of EDN1 (Endothelin-1)
R49P (p.Arg49Pro) in EDN1 (Endothelin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R49P (p.Arg49Pro) variant details
- p.Arg49Pro
- gnomAD 6-12292419-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.543
- CADD 26.60
- Population evidence available
- Structural context available
- Literature evidence available