G57S (p.Gly57Ser) variant of EDNRB (Endothelin receptor type B)
G57S (p.Gly57Ser) in EDNRB (Endothelin receptor type B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Hirschsprung disease, susceptibility to, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G57S (p.Gly57Ser) variant details
- p.Gly57Ser
- rs1801710
- ClinGen CA257561
- cosmic curated COSV10052
- ClinVar RCV000018117
- Conflicting interpretations
- not specified; not provided; Hirschsprung disease, susceptibility to, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- CADD 7.27
- PolyPhen-2 0.01
- SIFT 0.61
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Hirschsprung disease, susceptibilit)
- EBI: Benign (probable risk factor for Hirschsprung disease)
- UniProt: Benign (probable risk factor for Hirschsprung disease)
- Population evidence available
- Structural context available
- Cited in: Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's… (PMID 11471546)
- Cited in: A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. (PMID 8001158)