G16S (p.Gly16Ser) variant of ATP1A3 (P13637)
G16S (p.Gly16Ser) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Dystonia 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
G16S (p.Gly16Ser) variant details
- p.Gly16Ser
- rs559227917
- ClinGen CA9467979
- ClinVar RCV001373837
- ClinVar RCV002550180
- Uncertain significance
- Inborn genetic diseases; Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 0.39
- ClinVar: Uncertain significance (Inborn genetic diseases; Dystonia 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)