R259C (p.Arg259Cys) variant of ATP1A3 (P13637)
R259C (p.Arg259Cys) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of ATP1A3-related disorder; Dystonia 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
R259C (p.Arg259Cys) variant details
- p.Arg259Cys
- rs2145978147
- ClinGen CA406053186
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10013
- Uncertain significance
- ATP1A3-related disorder; Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- AlphaMissense 0.97
- MetaLR 0.90
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Uncertain significance (ATP1A3-related disorder; 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)