G30D (p.Gly30Asp) variant of EDNRB (Endothelin receptor type B)
G30D (p.Gly30Asp) in EDNRB (Endothelin receptor type B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G30D (p.Gly30Asp) variant details
- p.Gly30Asp
- cosmic curated COSV57522
- 1000Genomes rs551739242
- ExAC rs551739242
- TOPMed rs551739242
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- CADD 12.70
- PolyPhen-2 0.01
- SIFT 0.35
- Population evidence available
- Structural context available