R137L (p.Arg137Leu) variant of AVPR2 (Vasopressin V2 receptor)
R137L (p.Arg137Leu) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Nephrogenic syndrome of inappropriate antidiuresis. 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.
R137L (p.Arg137Leu) variant details
- p.Arg137Leu
- rs104894756
- ClinGen CA121200
- cosmic curated COSV61687
- ClinVar RCV000011602
- Pathogenic
- Nephrogenic syndrome of inappropriate antidiuresis
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (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)