R23W (p.Arg23Trp) variant of EDNRB (Endothelin receptor type B)
R23W (p.Arg23Trp) 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 0.30 / 1. The record also includes population frequency data and structural context.
R23W (p.Arg23Trp) variant details
- p.Arg23Trp
- rs769618877
- ClinGen CA7012401
- cosmic curated COSV10463
- ClinVar RCV002025575
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- CADD 19.80
- PolyPhen-2 0.13
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available