R84Q (p.Arg84Gln) variant of ATP1A3 (P13637)
R84Q (p.Arg84Gln) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R84Q (p.Arg84Gln) variant details
- p.Arg84Gln
- rs782194114
- ClinGen CA9467913
- NCI-TCGA Cosmic COSV5749
- cosmic curated COSV57490
- Uncertain significance
- not specified; Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- CADD 25.80
- PolyPhen-2 0.06
- SIFT 0.04
- ClinVar: Uncertain significance (not specified; Dystonia 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)