V71M (p.Val71Met) variant of AQP2 (Aquaporin-2)
V71M (p.Val71Met) 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; Diabetes insipidus, nephrogenic, autosomal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
V71M (p.Val71Met) variant details
- p.Val71Met
- rs149659001
- ClinGen CA236731400
- ClinVar RCV000516325
- ClinVar RCV001329304
- Pathogenic/Likely pathogenic
- not provided; Diabetes insipidus, nephrogenic, autosomal
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.87
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Diabetes insipidus, nephrogenic, autosomal)
- EBI: Pathogenic (in NDI2)
- UniProt: Pathogenic (in NDI2)
- Most common in the South Asian population (allele frequency 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)