R83L (p.Arg83Leu) variant of EDNRB (Endothelin receptor type B)
R83L (p.Arg83Leu) 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 0.32 / 1. The record also includes structural context.
R83L (p.Arg83Leu) variant details
- p.Arg83Leu
- rs1879919961
- ClinGen CA388452741
- ClinVar RCV003722335
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- AlphaMissense 0.09
- MetaLR 0.09
- MetaSVM -1.01
- PolyPhen-2 0.06
- SIFT 0.01
- MutPred 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available