V168M (p.Val168Met) variant of AQP2 (Aquaporin-2)
V168M (p.Val168Met) 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 Nephrogenic diabetes insipidus; Diabetes insipidus, nephrogenic, autosomal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
V168M (p.Val168Met) variant details
- p.Val168Met
- rs755694590
- ClinGen CA6559259
- ClinVar RCV002502089
- UniProt VAR 015247
- Pathogenic/Likely pathogenic
- Nephrogenic diabetes insipidus; Diabetes insipidus, nephrogenic, autosomal
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.83
- CADD 25.50
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Nephrogenic diabetes insipidus; Diabetes insipidus, nephrogenic,)
- EBI: Pathogenic (in NDI2)
- UniProt: Pathogenic (in NDI2)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes… (PMID 9402087)
- Cited in: Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families. (PMID 12050236)