A132D (p.Ala132Asp) variant of AVPR2 (Vasopressin V2 receptor)
A132D (p.Ala132Asp) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Diabetes insipidus, nephrogenic, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
A132D (p.Ala132Asp) variant details
- p.Ala132Asp
- rs104894747
- ClinGen CA255563
- ClinVar RCV000011583
- UniProt VAR 003527
- Pathogenic
- Diabetes insipidus, nephrogenic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- AlphaMissense 0.94
- MetaLR 0.34
- MetaSVM 0.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic (Diabetes insipidus, nephrogenic, X-linked)
- EBI: Pathogenic (in NDI1)
- UniProt: Pathogenic (in NDI1)
- Structural context available
- Cited in: Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus. (PMID 1356229)
- Cited in: Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic… (PMID 10477431)