G29S (p.Gly29Ser) variant of AQP2 (Aquaporin-2)
G29S (p.Gly29Ser) in AQP2 (Aquaporin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Nephrogenic diabetes insipidus; not provided; Diabetes insipidus, nephrogenic, a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G29S (p.Gly29Ser) variant details
- p.Gly29Ser
- rs964170650
- ClinGen CA236731096
- ClinVar RCV002947905
- ClinVar RCV003235748
- Conflicting interpretations
- Nephrogenic diabetes insipidus; not provided; Diabetes insipidus, nephrogenic, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.86
- CADD 27.00
- PolyPhen-2 0.93
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Nephrogenic diabetes insipidus; not provided; Diabetes insipidus)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Hereditary Nephrogenic Diabetes Insipidus. (PMID 20301356)