F105V (p.Phe105Val) variant of AVPR2 (Vasopressin V2 receptor)
F105V (p.Phe105Val) 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 0.76 / 1. The record also includes published literature and structural context.
F105V (p.Phe105Val) variant details
- p.Phe105Val
- rs104894758
- ClinGen CA255577
- ClinVar RCV000011598
- UniProt VAR 015315
- Pathogenic
- Diabetes insipidus, nephrogenic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- AlphaMissense 0.98
- MetaLR 0.61
- MetaSVM 0.58
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- 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)