G175R (p.Gly175Arg) variant of AQP2 (Aquaporin-2)
G175R (p.Gly175Arg) in AQP2 (Aquaporin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Nephrogenic diabetes insipidus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
G175R (p.Gly175Arg) variant details
- p.Gly175Arg
- rs104894335
- ClinGen CA127476
- ClinVar RCV000019413
- UniProt VAR 015248
- Likely pathogenic
- Nephrogenic diabetes insipidus
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Likely pathogenic (Nephrogenic diabetes insipidus)
- EBI: Pathogenic (in NDI2)
- UniProt: Pathogenic (in NDI2)
- Structural context available
- Cited in: Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic… (PMID 12191971)
- Cited in: Aquaporin-2, a vasopressin-sensitive water channel, and nephrogenic diabetes insipidus. (PMID 9550615)