C75G (p.Cys75Gly) variant of AQP2 (Aquaporin-2)
C75G (p.Cys75Gly) 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 0.60 / 1. The record also includes published literature and structural context.
C75G (p.Cys75Gly) variant details
- p.Cys75Gly
- rs193922494
- ClinGen CA260118
- ClinVar RCV000029341
- Ensembl rs193922494
- Likely pathogenic
- Nephrogenic diabetes insipidus
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- AlphaMissense 0.47
- MetaLR 0.68
- MetaSVM 0.65
- PolyPhen-2 0.41
- SIFT 0.01
- EVE 0.19
- ClinVar: Likely pathogenic (Nephrogenic diabetes insipidus)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Hereditary Nephrogenic Diabetes Insipidus. (PMID 20301356)