D923N (p.Asp923Asn) variant of ATP1A3 (P13637)
D923N (p.Asp923Asn) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of ATP1A3-associated neurological disorder; ATP1A3-related disorder; Cerebellar ata. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
D923N (p.Asp923Asn) variant details
- p.Asp923Asn
- rs267606670
- ClinGen CA163277
- NCI-TCGA Cosmic COSV5748
- cosmic curated COSV57487
- Pathogenic
- ATP1A3-associated neurological disorder; ATP1A3-related disorder; Cerebellar ata
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 1.04
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (ATP1A3-associated neurological disorder; ATP1A3-related disorder)
- EBI: Pathogenic (in DYT12)
- UniProt: Pathogenic (in DYT12)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation. (PMID 19652145)
- Cited in: ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients. (PMID 24842602)