Y128S (p.Tyr128Ser) variant of AVPR2 (Vasopressin V2 receptor)
Y128S (p.Tyr128Ser) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Diabetes insipidus, nephrogenic, X-linked; Nephrogenic syndrome of inappropriate. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
Y128S (p.Tyr128Ser) variant details
- p.Tyr128Ser
- rs781950164
- ClinGen CA415105523
- ClinVar RCV000710720
- ClinVar RCV002499282
- Pathogenic/Likely pathogenic
- Diabetes insipidus, nephrogenic, X-linked; Nephrogenic syndrome of inappropriate
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- AlphaMissense 0.63
- MetaLR 0.31
- MetaSVM -0.22
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Pathogenic/Likely pathogenic (Diabetes insipidus, nephrogenic, X-linked; Nephrogenic syndrome)
- EBI: Pathogenic (in NDI1)
- UniProt: Pathogenic (in NDI1)
- Population evidence available
- Structural context available
- Cited in: Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus. (PMID 1303257)
- Cited in: Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus. (PMID 7833930)