G947W (p.Gly947Trp) variant of ATP1A3 (P13637)
G947W (p.Gly947Trp) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.93 / 1. The record also includes published literature and structural context.
G947W (p.Gly947Trp) variant details
- p.Gly947Trp
- rs398122887
- ClinGen CA406035620
- cosmic curated COSV10013
- ClinVar RCV000850517
- Pathogenic/Likely pathogenic
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss s
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic/Likely pathogenic (Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineura)
- EBI: Pathogenic (in AHC2)
- UniProt: Pathogenic (in AHC2)
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)