R64P (p.Arg64Pro) variant of EDNRB (Endothelin receptor type B)
R64P (p.Arg64Pro) in EDNRB (Endothelin receptor type B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
R64P (p.Arg64Pro) variant details
- p.Arg64Pro
- ExAC rs201002254
- TOPMed rs201002254
- gnomAD rs201002254
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0942
- CADD 4.89
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available