H280Y (p.His280Tyr) variant of ATP1A3 (P13637)
H280Y (p.His280Tyr) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
H280Y (p.His280Tyr) variant details
- p.His280Tyr
- rs2075273663
- ClinGen CA406052863
- ClinVar RCV001216759
- Ensembl rs2075273663
- Uncertain significance
- Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- CADD 24.50
- PolyPhen-2 0.97
- SIFT 0.07
- 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)