T613M (p.Thr613Met) variant of ATP1A3 (P13637)
T613M (p.Thr613Met) 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; not provided; Alternating hemiplegia of childhood 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
T613M (p.Thr613Met) variant details
- p.Thr613Met
- rs80356534
- ClinGen CA341233
- cosmic curated COSV57484
- ClinVar RCV000013772
- Pathogenic
- ATP1A3-related disorder; not provided; Alternating hemiplegia of childhood 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.95
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Pathogenic (ATP1A3-related disorder; not provided; Alternating hemiplegia of)
- EBI: Pathogenic (in DYT12)
- UniProt: Pathogenic (in DYT12)
- Structural context available
- Cited in: Rapid-onset dystonia-parkinsonism: a clinical and genetic analysis of a new kindred. (PMID 11061257)
- Cited in: Possible sporadic rapid-onset dystonia-parkinsonism. (PMID 12112218)