R43Q (p.Arg43Gln) variant of ATP1A3 (P13637)
R43Q (p.Arg43Gln) 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; Inborn genetic diseases; 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.
R43Q (p.Arg43Gln) variant details
- p.Arg43Gln
- rs782453913
- ClinGen CA9467949
- cosmic curated COSV10511
- ClinVar RCV001048072
- Conflicting interpretations
- not provided; Inborn genetic diseases; Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.59
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases; Dystonia 12)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 8.3e-05)
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)