G100V (p.Gly100Val) variant of AQP2 (Aquaporin-2)
G100V (p.Gly100Val) in AQP2 (Aquaporin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G100V (p.Gly100Val) variant details
- p.Gly100Val
- rs104894338
- ClinGen CA127488
- ClinVar RCV000019421
- ClinVar RCV001851945
- Pathogenic
- not provided; Nephrogenic diabetes insipidus; Diabetes insipidus, nephrogenic, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.92
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: 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 0.00019)
- 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)