C42R (p.Cys42Arg) variant of ATP1A3 (P13637)
C42R (p.Cys42Arg) 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 0.40 / 1. The record also includes published literature and structural context.
C42R (p.Cys42Arg) variant details
- p.Cys42Arg
- rs2075305399
- ClinGen CA406057330
- ClinVar RCV001198824
- Ensembl rs2075305399
- Uncertain significance
- Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- AlphaMissense 0.95
- MetaLR 0.34
- MetaSVM -0.58
- PolyPhen-2 0.01
- SIFT 0.33
- EVE 0.33
- 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)