I293M (p.Ile293Met) variant of ATP1A2 (P50993)
I293M (p.Ile293Met) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; Alternating hemiplegia of childhood 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
I293M (p.Ile293Met) variant details
- p.Ile293Met
- rs1553244746
- ClinGen CA343237918
- ClinVar RCV000624702
- ClinVar RCV004526720
- Pathogenic
- Inborn genetic diseases; Alternating hemiplegia of childhood 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- AlphaMissense 0.69
- MetaLR 0.37
- MetaSVM -0.20
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.46
- ClinVar: Pathogenic (Inborn genetic diseases; Alternating hemiplegia of childhood 1)
- EBI: Pathogenic (in DEE98)
- UniProt: Pathogenic (in DEE98)
- Structural context available
- Cited in: ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria. (PMID 33880529)
- Cited in: Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative… (PMID 27864847)