R64L (p.Arg64Leu) variant of EDNRB (Endothelin receptor type B)
R64L (p.Arg64Leu) 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; Hirschsprung disease, susceptibility to, 2. 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.
R64L (p.Arg64Leu) variant details
- p.Arg64Leu
- rs201002254
- ClinGen CA7012381
- ClinVar RCV001112194
- ClinVar RCV002556190
- Uncertain significance
- not provided; Hirschsprung disease, susceptibility to, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.0876
- CADD 3.80
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (not provided; Hirschsprung disease, susceptibility to, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available