G100R (p.Gly100Arg) variant of AQP2 (Aquaporin-2)
G100R (p.Gly100Arg) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G100R (p.Gly100Arg) variant details
- p.Gly100Arg
- rs1303076207
- ClinGen CA384772282
- NCI-TCGA Cosmic COSV5222
- ClinVar RCV002540722
- Pathogenic/Likely pathogenic
- not provided; Diabetes insipidus, nephrogenic, autosomal
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.85
- CADD 28.70
- PolyPhen-2 1.00
- 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 East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Novel mutations underlying nephrogenic diabetes insipidus in Arab families. (PMID 16845277)
- Cited in: Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families. (PMID 12050236)