R181C (p.Arg181Cys) variant of AVPR2 (Vasopressin V2 receptor)
R181C (p.Arg181Cys) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Diabetes insipidus, nephrogenic, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and published literature.
R181C (p.Arg181Cys) variant details
- p.Arg181Cys
- rs104894757
- ClinGen CA255576
- ClinVar RCV000011597
- ClinVar RCV002472927
- Pathogenic
- not provided; Diabetes insipidus, nephrogenic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- CADD 23.40
- PolyPhen-2 0.92
- SIFT 0.03
- ClinVar: Pathogenic (not provided; Diabetes insipidus, nephrogenic, X-linked)
- EBI: Pathogenic (in NDI1)
- UniProt: Pathogenic (in NDI1)
- Population evidence available
- Cited in: Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus. (PMID 1303257)
- Cited in: Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus. (PMID 8037205)