E818K (p.Glu818Lys) variant of ATP1A3 (P13637)
E818K (p.Glu818Lys) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of ATP1A3-related disorder; Inborn genetic diseases; Cerebellar ataxia-areflexia-pe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
E818K (p.Glu818Lys) variant details
- p.Glu818Lys
- rs587777771
- ClinGen CA204733
- NCI-TCGA Cosmic COSV5748
- cosmic curated COSV57489
- Pathogenic
- ATP1A3-related disorder; Inborn genetic diseases; Cerebellar ataxia-areflexia-pe
- Missense
- Variant Prioritization Score for Impact Estimate 0.93
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Pathogenic (ATP1A3-related disorder; Inborn genetic diseases; Cerebellar ata)
- EBI: Pathogenic (in CAPOS)
- UniProt: Pathogenic (in CAPOS)
- Structural context available
- Cited in: A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. (PMID 24468074)
- Cited in: Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome. (PMID 25056583)