G848A (p.Gly848Ala) variant of ATP1A3 (P13637)
G848A (p.Gly848Ala) 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 0.96 / 1. The record also includes published literature and structural context.
G848A (p.Gly848Ala) variant details
- p.Gly848Ala
- rs1599705281
- ClinGen CA406038429
- ClinVar RCV000995498
- Ensembl rs1599705281
- Likely pathogenic
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss s
- Missense
- Variant Prioritization Score for Impact Estimate 0.956
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.07
- PolyPhen-2 0.99
- SIFT 0.02
- MutPred 0.84
- 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)