G66R (p.Gly66Arg) variant of ATP1A3 (P13637)
G66R (p.Gly66Arg) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dystonia 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
G66R (p.Gly66Arg) variant details
- p.Gly66Arg
- rs2145983320
- ClinGen CA406056791
- ClinVar RCV001904674
- Ensembl rs2145983320
- Uncertain significance
- Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Uncertain significance (Dystonia 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)