N68S (p.Asn68Ser) variant of AQP2 (Aquaporin-2)
N68S (p.Asn68Ser) 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 0.88 / 1. The record also includes published literature and structural context.
N68S (p.Asn68Ser) variant details
- p.Asn68Ser
- rs104894331
- ClinGen CA127474
- ClinVar RCV000019412
- UniProt VAR 015242
- Pathogenic
- Diabetes insipidus, nephrogenic, autosomal
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- AlphaMissense 0.96
- MetaLR 0.98
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Pathogenic (Diabetes insipidus, nephrogenic, autosomal)
- EBI: Pathogenic (in NDI2)
- UniProt: Pathogenic (in NDI2)
- Structural context available
- Cited in: New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels. (PMID 9048343)
- Cited in: Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families. (PMID 12050236)