A47V (p.Ala47Val) variant of AQP2 (Aquaporin-2)
A47V (p.Ala47Val) in AQP2 (Aquaporin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Nephrogenic diabetes insipidus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
A47V (p.Ala47Val) variant details
- p.Ala47Val
- rs995684800
- ClinGen CA236731189
- NCI-TCGA Cosmic COSV5223
- ClinVar RCV003558579
- Likely pathogenic
- not provided; Nephrogenic diabetes insipidus
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.77
- CADD 23.90
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Nephrogenic diabetes insipidus)
- EBI: Pathogenic (in NDI2)
- UniProt: Pathogenic (in NDI2)
- Most common in the East Asian population (allele frequency 2.5e-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)