E18D (p.Glu18Asp) variant of ATP1A3 (P13637)
E18D (p.Glu18Asp) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
E18D (p.Glu18Asp) variant details
- p.Glu18Asp
- rs541121307
- ClinGen CA406057824
- ClinVar RCV001350323
- 1000Genomes rs541121307
- Uncertain significance
- Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- CADD 13.00
- PolyPhen-2 0.02
- SIFT 0.58
- ClinVar: Uncertain significance (Dystonia 12)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)