A285P (p.Ala285Pro) variant of AVPR2 (Vasopressin V2 receptor)
A285P (p.Ala285Pro) 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 diabetes insipidus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature.
A285P (p.Ala285Pro) variant details
- p.Ala285Pro
- rs193922122
- ClinGen CA260173
- ClinVar RCV000029399
- UniProt VAR 003542
- Likely pathogenic
- Nephrogenic diabetes insipidus
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- AlphaMissense 0.95
- MetaLR 0.58
- MetaSVM 0.36
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Likely pathogenic (Nephrogenic diabetes insipidus)
- EBI: Pathogenic (in NDI1)
- UniProt: Pathogenic (in NDI1)
- Cited in: Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus. (PMID 8037205)
- Cited in: Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic… (PMID 10477431)