G89A (p.Gly89Ala) variant of ATP1A3 (P13637)
G89A (p.Gly89Ala) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Dystonia 12; Hereditary ataxia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
G89A (p.Gly89Ala) variant details
- p.Gly89Ala
- rs1599725621
- ClinGen CA406056451
- ClinVar RCV000995500
- ClinVar RCV003442137
- Pathogenic/Likely pathogenic
- Dystonia 12; Hereditary ataxia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- AlphaMissense 0.90
- MetaLR 0.68
- MetaSVM 0.50
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Pathogenic/Likely pathogenic (Dystonia 12; Hereditary ataxia; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)