I46K (p.Ile46Lys) variant of AVPR2 (Vasopressin V2 receptor)
I46K (p.Ile46Lys) 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 0.28 / 1. The record also includes published literature and structural context.
I46K (p.Ile46Lys) variant details
- p.Ile46Lys
- rs104894759
- ClinGen CA255578
- ClinVar RCV000011599
- UniProt VAR 015298
- Pathogenic
- Diabetes insipidus, nephrogenic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- AlphaMissense 0.11
- MetaLR 0.03
- MetaSVM -0.98
- PolyPhen-2 0.00
- SIFT 0.99
- EVE 0.11
- ClinVar: Pathogenic (Diabetes insipidus, nephrogenic, X-linked)
- EBI: Pathogenic (in NDI1)
- UniProt: Pathogenic (in NDI1)
- Structural context available
- Cited in: Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families. (PMID 10770218)
- Cited in: Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic… (PMID 10477431)