E815K (p.Glu815Lys) variant of ATP1A3 (P13637)
E815K (p.Glu815Lys) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Dystonic disorder; Dyskinesia; Neurodevelopmental delay. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
E815K (p.Glu815Lys) variant details
- p.Glu815Lys
- rs387907281
- ClinGen CA342903
- NCI-TCGA Cosmic COSV5748
- cosmic curated COSV57486
- Pathogenic
- Dystonic disorder; Dyskinesia; Neurodevelopmental delay
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic (Dystonic disorder; Dyskinesia; Neurodevelopmental delay)
- EBI: Pathogenic (in AHC2)
- UniProt: Pathogenic (in AHC2)
- Structural context available
- Cited in: De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. (PMID 22842232)
- Cited in: Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing… (PMID 22850527)