R137C (p.Arg137Cys) variant of AVPR2 (Vasopressin V2 receptor)
R137C (p.Arg137Cys) 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 syndrome of inappropriate antidiuresis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R137C (p.Arg137Cys) variant details
- p.Arg137Cys
- rs104894761
- ClinGen CA121199
- ClinVar RCV000011601
- ClinVar RCV001171627
- Pathogenic
- not provided; Nephrogenic syndrome of inappropriate antidiuresis
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- AlphaMissense 0.93
- MetaLR 0.96
- MetaSVM 1.08
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Nephrogenic syndrome of inappropriate antidiuresis)
- EBI: Pathogenic (in NSIAD)
- UniProt: Pathogenic (in NSIAD)
- Population evidence available
- Structural context available
- Cited in: Nephrogenic syndrome of inappropriate antidiuresis. (PMID 15872203)