R64W (p.Arg64Trp) variant of EDNRB (Endothelin receptor type B)
R64W (p.Arg64Trp) in EDNRB (Endothelin receptor type B) is a missense change. Clinical records from ClinVar 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 0.11 / 1. The record also includes population frequency data and structural context.
R64W (p.Arg64Trp) variant details
- p.Arg64Trp
- rs139147111
- cosmic curated COSV57529
- ESP rs139147111
- ExAC rs139147111
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- CADD 8.00
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available