R76G (p.Arg76Gly) variant of EDNRB (Endothelin receptor type B)
R76G (p.Arg76Gly) in EDNRB (Endothelin receptor type B) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R76G (p.Arg76Gly) variant details
- p.Arg76Gly
- ExAC rs201207916
- TOPMed rs201207916
- gnomAD rs201207916
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.40
- EBI: Likely benign (in dbSNP:rs2228271)
- UniProt: Likely benign (in dbSNP:rs2228271)
- Population evidence available
- Structural context available