C181W (p.Cys181Trp) variant of AQP2 (Aquaporin-2)
C181W (p.Cys181Trp) in AQP2 (Aquaporin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Diabetes insipidus, nephrogenic, autosomal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
C181W (p.Cys181Trp) variant details
- p.Cys181Trp
- rs104894337
- ClinGen CA127484
- ClinVar RCV000019417
- UniProt VAR 015249
- Pathogenic
- Diabetes insipidus, nephrogenic, autosomal
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- AlphaMissense 1.00
- MetaLR 0.85
- MetaSVM 0.75
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (Diabetes insipidus, nephrogenic, autosomal)
- EBI: Pathogenic (in NDI2)
- UniProt: Pathogenic (in NDI2)
- Structural context available
- Cited in: Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with… (PMID 9302264)
- Cited in: Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families. (PMID 12050236)