R202C (p.Arg202Cys) variant of AVPR2 (Vasopressin V2 receptor)
R202C (p.Arg202Cys) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Renal tubulopathies; not provided; Diabetes insipidus, nephrogenic, X-linked. 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.
R202C (p.Arg202Cys) variant details
- p.Arg202Cys
- rs782806507
- ClinGen CA10555034
- ClinVar RCV001569847
- ClinVar RCV002488389
- Pathogenic/Likely pathogenic
- Renal tubulopathies; not provided; Diabetes insipidus, nephrogenic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- CADD 23.00
- PolyPhen-2 0.50
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Renal tubulopathies; not provided; Diabetes insipidus, nephrogen)
- EBI: Pathogenic (in NDI1)
- UniProt: Pathogenic (in NDI1)
- Population evidence available
- Structural context available
- Cited in: Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with… (PMID 7560098)
- Cited in: Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus. (PMID 8037205)