L44F (p.Leu44Phe) variant of AVPR2 (Vasopressin V2 receptor)
L44F (p.Leu44Phe) 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 Diabetes insipidus, nephrogenic, X-linked; not provided. The record also includes published literature and structural context.
L44F (p.Leu44Phe) variant details
- p.Leu44Phe
- rs2521151410
- ClinGen CA415103871
- ClinVar RCV003560305
- ClinVar RCV006562213
- Pathogenic/Likely pathogenic
- Diabetes insipidus, nephrogenic, X-linked; not provided
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Diabetes insipidus, nephrogenic, X-linked; not provided)
- EBI: Pathogenic (in NDI1)
- UniProt: Pathogenic (in NDI1)
- Structural context available
- Cited in: Hereditary Nephrogenic Diabetes Insipidus. (PMID 20301356)