D742Y (p.Asp742Tyr) variant of ATP1A3 (P13637)
D742Y (p.Asp742Tyr) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.88 / 1. The record also includes published literature and structural context.
D742Y (p.Asp742Tyr) variant details
- p.Asp742Tyr
- rs1135401822
- ClinGen CA406041744
- ClinVar RCV000496169
- ClinVar RCV006463111
- Pathogenic/Likely pathogenic
- Dystonia 12; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural h
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- AlphaMissense 1.00
- MetaLR 0.85
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Pathogenic/Likely pathogenic (Dystonia 12; Cerebellar ataxia-areflexia-pes cavus-optic atrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)