P322L (p.Pro322Leu) variant of AVPR2 (Vasopressin V2 receptor)
P322L (p.Pro322Leu) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Nephrogenic diabetes insipidus; not provided. The record also includes published literature and structural context.
P322L (p.Pro322Leu) variant details
- p.Pro322Leu
- rs2521161799
- ClinGen CA415110993
- ClinVar RCV003050678
- ClinVar RCV005245540
- Pathogenic/Likely pathogenic
- Nephrogenic diabetes insipidus; not provided
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Nephrogenic diabetes insipidus; not provided)
- EBI: Pathogenic (in NDI1)
- UniProt: Pathogenic (in NDI1)
- Structural context available
- Cited in: Hereditary Nephrogenic Diabetes Insipidus. (PMID 20301356)