R64Q (p.Arg64Gln) variant of ATP1A3 (P13637)
R64Q (p.Arg64Gln) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Dystonia 12; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R64Q (p.Arg64Gln) variant details
- p.Arg64Gln
- rs201573515
- ClinGen CA9467926
- cosmic curated COSV57487
- ClinVar RCV000560382
- Conflicting interpretations
- not provided; Dystonia 12; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (not provided; Dystonia 12; not specified)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)