G270D (p.Gly270Asp) variant of ATP1A3 (P13637)
G270D (p.Gly270Asp) 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 0.67 / 1. The record also includes published literature and structural context.
G270D (p.Gly270Asp) variant details
- p.Gly270Asp
- rs1555864875
- ClinGen CA406053036
- ClinVar RCV001894190
- gnomAD rs1555864875
- Uncertain significance
- Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- AlphaMissense 0.84
- MetaLR 0.74
- MetaSVM 0.58
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.36
- ClinVar: Uncertain significance (Dystonia 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)