R84G (p.Arg84Gly) variant of ATP1A3 (P13637)
R84G (p.Arg84Gly) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Dystonia 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
R84G (p.Arg84Gly) variant details
- p.Arg84Gly
- rs1555866028
- ClinGen CA406056520
- ClinVar RCV000549638
- Ensembl rs1555866028
- Likely benign
- Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- AlphaMissense 0.49
- MetaLR 0.45
- MetaSVM -0.13
- PolyPhen-2 0.38
- SIFT 0.00
- EVE 0.24
- ClinVar: Likely benign (Dystonia 12)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)