Q851R (p.Gln851Arg) variant of ATP1A3 (P13637)
Q851R (p.Gln851Arg) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
Q851R (p.Gln851Arg) variant details
- p.Gln851Arg
- rs2145946065
- ClinGen CA406038376
- ClinVar RCV001809048
- ClinVar RCV003317531
- Likely pathogenic
- not provided; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.07
- PolyPhen-2 0.94
- SIFT 0.00
- EVE 0.71
- ClinVar: Likely pathogenic (not provided; Cerebellar ataxia-areflexia-pes cavus-optic atroph)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)