R137H (p.Arg137His) variant of AVPR2 (Vasopressin V2 receptor)
R137H (p.Arg137His) 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; Nephrogenic diabetes insipidus; Nephrogenic syndrome of inappropri. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R137H (p.Arg137His) variant details
- p.Arg137His
- rs104894756
- ClinGen CA255575
- ClinVar RCV000011596
- ClinVar RCV001527658
- Pathogenic
- not provided; Nephrogenic diabetes insipidus; Nephrogenic syndrome of inappropri
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Nephrogenic diabetes insipidus; Nephrogenic syndro)
- EBI: Pathogenic (in NDI1)
- UniProt: Pathogenic (in NDI1)
- Population evidence available
- Structural context available
- Cited in: Constitutive arrestin-mediated desensitization of a human vasopressin receptor mutant associated with nephrogenic… (PMID 11134505)
- Cited in: Nephrogenic syndrome of inappropriate antidiuresis. (PMID 15872203)