G185C (p.Gly185Cys) variant of AVPR2 (Vasopressin V2 receptor)
G185C (p.Gly185Cys) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Diabetes insipidus, nephrogenic, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature.
G185C (p.Gly185Cys) variant details
- p.Gly185Cys
- rs104894748
- ClinGen CA255564
- ClinVar RCV000011584
- UniProt VAR 003535
- Pathogenic
- Diabetes insipidus, nephrogenic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- AlphaMissense 0.36
- MetaLR 0.28
- MetaSVM -0.52
- PolyPhen-2 0.96
- SIFT 0.05
- MutPred 0.82
- ClinVar: Pathogenic (Diabetes insipidus, nephrogenic, X-linked)
- EBI: Pathogenic (in NDI1)
- UniProt: Pathogenic (in NDI1)
- Cited in: Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus. (PMID 1303271)
- Cited in: Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic… (PMID 10477431)