R187H (p.Arg187His) variant of AQP2 (Aquaporin-2)
R187H (p.Arg187His) 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; Diabetes insipidus, nephrogenic, a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R187H (p.Arg187His) variant details
- p.Arg187His
- rs193922495
- ClinGen CA260124
- ClinVar RCV000029345
- ClinVar RCV001852583
- Likely pathogenic
- not provided; Nephrogenic diabetes insipidus; Diabetes insipidus, nephrogenic, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.92
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Likely 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 2.5e-05)
- Structural context available
- Cited in: Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus. (PMID 16361827)
- Cited in: Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families. (PMID 12050236)