L62P (p.Leu62Pro) variant of AVPR2 (Vasopressin V2 receptor)
L62P (p.Leu62Pro) 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 Nephrogenic syndrome of inappropriate antidiuresis. The record also includes published literature and structural context.
L62P (p.Leu62Pro) variant details
- p.Leu62Pro
- rs2521151990
- ClinGen CA415104099
- ClinVar RCV003336651
- UniProt VAR 015304
- Likely pathogenic
- Nephrogenic syndrome of inappropriate antidiuresis
- Missense
- ClinVar: Likely pathogenic (Nephrogenic syndrome of inappropriate antidiuresis)
- EBI: Pathogenic (in NDI1)
- UniProt: Pathogenic (in NDI1)
- Structural context available
- Cited in: Inheritance of mutations in the V2 receptor gene in thirteen families with nephrogenic diabetes insipidus. (PMID 7933835)
- Cited in: Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic… (PMID 10477431)