R20G (p.Arg20Gly) variant of ATP1A3 (P13637)
R20G (p.Arg20Gly) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, 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 0.31 / 1. The record also includes population frequency data and structural context.
R20G (p.Arg20Gly) variant details
- p.Arg20Gly
- ExAC rs782461379
- TOPMed rs782461379
- gnomAD rs782461379
- Uncertain significance
- Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.11
- ClinVar: Uncertain significance (Dystonia 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available