Y205C (p.Tyr205Cys) variant of AVPR2 (Vasopressin V2 receptor)
Y205C (p.Tyr205Cys) 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 AVPR2-related disorder; Nephrogenic diabetes insipidus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
Y205C (p.Tyr205Cys) variant details
- p.Tyr205Cys
- rs104894749
- ClinGen CA255565
- ClinVar RCV000011585
- ClinVar RCV000029393
- Pathogenic/Likely pathogenic
- AVPR2-related disorder; Nephrogenic diabetes insipidus
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- AlphaMissense 0.96
- MetaLR 0.41
- MetaSVM 0.19
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic/Likely pathogenic (AVPR2-related disorder; Nephrogenic diabetes insipidus)
- EBI: Pathogenic (in NDI1)
- UniProt: Pathogenic (in NDI1)
- Structural context available
- Cited in: Misfolded vasopressin V2 receptors caused by extracellular point mutations entail congential nephrogenic diabetes… (PMID 11026555)
- Cited in: Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus. (PMID 1303271)