N773S (p.Asn773Ser) variant of ATP1A3 (P13637)
N773S (p.Asn773Ser) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Alternating hemiplegia of childhood 2; not provided; Dystonia 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
N773S (p.Asn773Ser) variant details
- p.Asn773Ser
- rs606231437
- ClinGen CA346021
- ClinVar RCV000148319
- ClinVar RCV002510791
- Pathogenic
- Alternating hemiplegia of childhood 2; not provided; Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- AlphaMissense 0.81
- MetaLR 0.77
- MetaSVM 0.61
- PolyPhen-2 0.57
- SIFT 0.00
- EVE 0.43
- ClinVar: Pathogenic (Alternating hemiplegia of childhood 2; not provided; Dystonia 12)
- 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: ATP1A3-Related Disorder. (PMID 20301294)