R113W (p.Arg113Trp) variant of AVPR2 (Vasopressin V2 receptor)
R113W (p.Arg113Trp) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R113W (p.Arg113Trp) variant details
- p.Arg113Trp
- rs28935496
- ClinGen CA255567
- NCI-TCGA Cosmic COSV6168
- cosmic curated COSV61686
- Pathogenic
- not provided; Diabetes insipidus, nephrogenic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Diabetes insipidus, nephrogenic, X-linked)
- EBI: Pathogenic (in NDI1)
- UniProt: Pathogenic (in NDI1)
- Population evidence available
- Structural context available
- Cited in: Nephrogenic diabetes insipidus in North America. The Hopewell hypothesis. (PMID 4886456)
- Cited in: Nephrogenic diabetes insipidus: absence of close linkage with Xg. (PMID 5309332)