I130F (p.Ile130Phe) variant of AVPR2 (Vasopressin V2 receptor)
I130F (p.Ile130Phe) 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 0.68 / 1. The record also includes published literature and structural context.
I130F (p.Ile130Phe) variant details
- p.Ile130Phe
- rs796052096
- ClinGen CA275913
- ClinVar RCV000186513
- UniProt VAR 015321
- Pathogenic
- Diabetes insipidus, nephrogenic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- AlphaMissense 0.86
- MetaLR 0.57
- MetaSVM 0.24
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- 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)