G200S (p.Gly200Ser) variant of ATP1A3 (P13637)
G200S (p.Gly200Ser) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Dystonia 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
G200S (p.Gly200Ser) variant details
- p.Gly200Ser
- rs1555865238
- ClinGen CA406054258
- ClinVar RCV001337893
- ClinVar RCV006266713
- Uncertain significance
- not provided; Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- CADD 22.50
- PolyPhen-2 0.47
- SIFT 0.14
- ClinVar: Uncertain significance (not provided; Dystonia 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)