R76M (p.Arg76Met) variant of EDNRB (Endothelin receptor type B)
R76M (p.Arg76Met) in EDNRB (Endothelin receptor type B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
R76M (p.Arg76Met) variant details
- p.Arg76Met
- rs2228271
- ClinGen CA7012375
- ClinVar RCV001568259
- UniProt VAR 024255
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- CADD 16.50
- PolyPhen-2 0.27
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance (in dbSNP:rs2228271)
- UniProt: Uncertain significance (in dbSNP:rs2228271)
- Population evidence available
- Structural context available