G89C (p.Gly89Cys) variant of ATP1A3 (P13637)
G89C (p.Gly89Cys) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.77 / 1. The record also includes published literature and structural context.
G89C (p.Gly89Cys) variant details
- p.Gly89Cys
- rs1057522886
- ClinGen CA406056455
- ClinVar RCV002465433
- Likely pathogenic
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss s
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- AlphaMissense 0.83
- MetaLR 0.71
- MetaSVM 0.67
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Likely pathogenic (Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineura)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)