R756L (p.Arg756Leu) variant of ATP1A3 (P13637)
R756L (p.Arg756Leu) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
R756L (p.Arg756Leu) variant details
- p.Arg756Leu
- rs606231435
- ClinGen CA406039782
- ClinVar RCV002274491
- ClinVar RCV005865104
- Pathogenic
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss s
- Missense
- Variant Prioritization Score for Impact Estimate 0.955
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Pathogenic (Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineura)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)