Q57P (p.Gln57Pro) variant of AQP2 (Aquaporin-2)
Q57P (p.Gln57Pro) in AQP2 (Aquaporin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Nephrogenic diabetes insipidus; Diabetes insipidus, nephrogenic, a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
Q57P (p.Gln57Pro) variant details
- p.Gln57Pro
- rs28931580
- ClinGen CA127486
- ClinVar RCV000019420
- ClinVar RCV001039718
- Pathogenic/Likely pathogenic
- not provided; Nephrogenic diabetes insipidus; Diabetes insipidus, nephrogenic, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.90
- CADD 25.20
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Nephrogenic diabetes insipidus; Diabetes insipidus)
- EBI: Pathogenic (in NDI2)
- UniProt: Pathogenic (in NDI2)
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available
- Cited in: Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families. (PMID 12050236)
- Cited in: Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic… (PMID 12191971)