R254C (p.Arg254Cys) variant of ATP1A3 (P13637)
R254C (p.Arg254Cys) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Dystonia 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R254C (p.Arg254Cys) variant details
- p.Arg254Cys
- rs782783739
- ClinGen CA9467779
- ClinVar RCV002877584
- ClinVar RCV003403935
- Uncertain significance
- not specified; Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- CADD 29.00
- PolyPhen-2 0.77
- SIFT 0.01
- ClinVar: Uncertain significance (not specified; Dystonia 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)