G201D (p.Gly201Asp) variant of AVPR2 (Vasopressin V2 receptor)
G201D (p.Gly201Asp) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
G201D (p.Gly201Asp) variant details
- p.Gly201Asp
- rs104894755
- ClinGen CA255574
- ClinVar RCV000011593
- UniProt VAR 015328
- Pathogenic
- Diabetes insipidus, nephrogenic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Diabetes insipidus, nephrogenic, X-linked)
- EBI: Pathogenic (in NDI1)
- UniProt: Pathogenic (in NDI1)
- Population evidence available
- Structural context available
- Cited in: An X-linked NDI mutation reveals a requirement for cell surface V2R expression. (PMID 9171234)
- Cited in: Biochemical basis of partial nephrogenic diabetes insipidus phenotypes. (PMID 9369448)