T243M (p.Thr243Met) variant of ATP1A3 (P13637)
T243M (p.Thr243Met) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
T243M (p.Thr243Met) variant details
- p.Thr243Met
- rs2075274884
- ClinGen CA406053281
- NCI-TCGA Cosmic COSV5748
- cosmic curated COSV57487
- Uncertain significance
- Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- CADD 26.80
- PolyPhen-2 0.78
- SIFT 0.03
- ClinVar: Uncertain significance (Dystonia 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)