A183G (p.Ala183Gly) variant of EDNRB (Endothelin receptor type B)
A183G (p.Ala183Gly) in EDNRB (Endothelin receptor type B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Waardenburg syndrome type 4A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
A183G (p.Ala183Gly) variant details
- p.Ala183Gly
- rs104894388
- ClinGen CA126744
- ClinVar RCV000018114
- UniProt VAR 003470
- Pathogenic
- Waardenburg syndrome type 4A
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- AlphaMissense 0.38
- MetaLR 0.35
- MetaSVM -0.37
- PolyPhen-2 0.02
- SIFT 0.04
- EVE 0.23
- ClinVar: Pathogenic (Waardenburg syndrome type 4A)
- EBI: Pathogenic (in WS4A)
- UniProt: Pathogenic (in WS4A)
- Structural context available
- Cited in: Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease. (PMID 8634719)
- Cited in: SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. (PMID 12189494)