S218T (p.Ser218Thr) variant of ATP1A3 (P13637)
S218T (p.Ser218Thr) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S218T (p.Ser218Thr) variant details
- p.Ser218Thr
- rs782150714
- ClinGen CA9467819
- ClinVar RCV002300953
- ClinVar RCV006470463
- Uncertain significance
- Dystonia 12; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- CADD 19.80
- PolyPhen-2 0.01
- SIFT 0.35
- ClinVar: Uncertain significance (Dystonia 12; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)