R104C (p.Arg104Cys) variant of AVPR2 (Vasopressin V2 receptor)
R104C (p.Arg104Cys) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Diabetes insipidus, nephrogenic, X-linked; Nephrogenic syndrome of inappropriate. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R104C (p.Arg104Cys) variant details
- p.Arg104Cys
- rs104894760
- ClinGen CA255579
- cosmic curated COSV61686
- ClinVar RCV000011600
- Likely pathogenic
- Diabetes insipidus, nephrogenic, X-linked; Nephrogenic syndrome of inappropriate
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Diabetes insipidus, nephrogenic, X-linked; Nephrogenic syndrome)
- EBI: Pathogenic (in NDI1)
- UniProt: Pathogenic (in NDI1)
- Population evidence available
- Structural context available
- Cited in: The property of a novel v2 receptor mutant in a patient with nephrogenic diabetes insipidus. (PMID 11232028)
- Cited in: Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic… (PMID 10477431)