G287C (p.Gly287Cys) variant of ATP1A3 (P13637)
G287C (p.Gly287Cys) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; 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.
G287C (p.Gly287Cys) variant details
- p.Gly287Cys
- rs1279680384
- ClinGen CA406052739
- ClinVar RCV003069252
- ClinVar RCV005242300
- Uncertain significance
- not provided; Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- CADD 23.20
- PolyPhen-2 0.98
- SIFT 0.12
- ClinVar: Uncertain significance (not provided; Dystonia 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)