R20Q (p.Arg20Gln) variant of ATP1A3 (P13637)
R20Q (p.Arg20Gln) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Dystonia 12. 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.
R20Q (p.Arg20Gln) variant details
- p.Arg20Gln
- rs949169436
- ClinGen CA308599532
- ClinVar RCV000690433
- TOPMed rs949169436
- Likely benign
- Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Likely benign (Dystonia 12)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)