R187C (p.Arg187Cys) variant of AQP2 (Aquaporin-2)
R187C (p.Arg187Cys) 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 AQP2-related nephrogenic diabetes insipidus; not provided; Nephrogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R187C (p.Arg187Cys) variant details
- p.Arg187Cys
- rs104894328
- ClinGen CA127464
- ClinVar RCV000019406
- ClinVar RCV000029344
- Pathogenic/Likely pathogenic
- AQP2-related nephrogenic diabetes insipidus; not provided; Nephrogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.84
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (AQP2-related nephrogenic diabetes insipidus; not provided; Nephr)
- EBI: Pathogenic (in NDI2)
- UniProt: Pathogenic (in NDI2)
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane… (PMID 15509592)
- Cited in: Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene. (PMID 7524315)