E258K (p.Glu258Lys) variant of AQP2 (Aquaporin-2)
E258K (p.Glu258Lys) in AQP2 (Aquaporin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Nephrogenic diabetes insipidus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
E258K (p.Glu258Lys) variant details
- p.Glu258Lys
- rs104894332
- ClinGen CA127478
- ClinVar RCV000019414
- UniProt VAR 015254
- Likely pathogenic
- Nephrogenic diabetes insipidus
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- AlphaMissense 0.61
- MetaLR 0.78
- MetaSVM 0.64
- PolyPhen-2 0.98
- SIFT 0.18
- MutPred 0.77
- ClinVar: Likely pathogenic (Nephrogenic diabetes insipidus)
- EBI: Pathogenic (in NDI2)
- UniProt: Pathogenic (in NDI2)
- Structural context available
- Cited in: Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic… (PMID 19701945)
- Cited in: An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the… (PMID 9649557)