R230Q (p.Arg230Gln) variant of ATP1A3 (P13637)
R230Q (p.Arg230Gln) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Dystonia 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
R230Q (p.Arg230Gln) variant details
- p.Arg230Gln
- ExAC rs782657023
- gnomAD rs782657023
- Uncertain significance
- Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- CADD 23.20
- PolyPhen-2 0.21
- SIFT 0.20
- ClinVar: Uncertain significance (Dystonia 12)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available