T76I (p.Thr76Ile) variant of ATP1A3 (P13637)
T76I (p.Thr76Ile) 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
T76I (p.Thr76Ile) variant details
- p.Thr76Ile
- rs2145983246
- ClinGen CA406056628
- ClinVar RCV001955386
- Ensembl rs2145983246
- Uncertain significance
- Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- CADD 22.90
- PolyPhen-2 0.23
- SIFT 0.06
- ClinVar: Uncertain significance (Dystonia 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)