D3G (p.Asp3Gly) variant of ATP1A3 (P13637)
D3G (p.Asp3Gly) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
D3G (p.Asp3Gly) variant details
- p.Asp3Gly
- rs1555866352
- ClinGen CA406058082
- ClinVar RCV003121704
- gnomAD rs1555866352
- Uncertain significance
- Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- CADD 25.30
- PolyPhen-2 0.96
- SIFT 0.05
- 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
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)