R163Q (p.Arg163Gln) variant of ATP1A3 (P13637)
R163Q (p.Arg163Gln) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R163Q (p.Arg163Gln) variant details
- p.Arg163Gln
- rs2514078905
- ClinGen CA406054739
- ClinVar RCV002907664
- ClinVar RCV006546142
- Uncertain significance
- Dystonia 12; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Dystonia 12; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)