C927Y (p.Cys927Tyr) variant of ATP1A3 (P13637)
C927Y (p.Cys927Tyr) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Dystonia 12; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural h. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
C927Y (p.Cys927Tyr) variant details
- p.Cys927Tyr
- rs606231444
- ClinVar RCV004795845
- UniProt VAR 070774
- Ensembl rs606231444
- Likely pathogenic
- Dystonia 12; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural h
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.07
- PolyPhen-2 0.97
- SIFT 0.01
- EVE 0.58
- ClinVar: Likely pathogenic (Dystonia 12; Cerebellar ataxia-areflexia-pes cavus-optic atrophy)
- EBI: Pathogenic (in AHC2)
- UniProt: Pathogenic (in AHC2)
- Structural context available
- Cited in: Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese… (PMID 23409136)
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)