P185A (p.Pro185Ala) variant of AQP2 (Aquaporin-2)
P185A (p.Pro185Ala) 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; Diabetes insipidus, nephrogenic, autosomal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P185A (p.Pro185Ala) variant details
- p.Pro185Ala
- rs761713751
- UniProt VAR 015250
- ExAC rs761713751
- TOPMed rs761713751
- Likely pathogenic
- Nephrogenic diabetes insipidus; Diabetes insipidus, nephrogenic, autosomal
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- CADD 3.28
- ClinVar: Likely pathogenic (Nephrogenic diabetes insipidus; Diabetes insipidus, nephrogenic,)
- EBI: Pathogenic (in NDI2)
- UniProt: Pathogenic (in NDI2)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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: Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families. (PMID 12050236)