R49Q (p.Arg49Gln) variant of EDN1 (Endothelin-1)
R49Q (p.Arg49Gln) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R49Q (p.Arg49Gln) variant details
- p.Arg49Gln
- gnomAD 6-12292422-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.87
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available