K5E (p.Lys5Glu) variant of ATP1A3 (P13637)
K5E (p.Lys5Glu) 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 0.51 / 1. The record also includes published literature and structural context.
K5E (p.Lys5Glu) variant details
- p.Lys5Glu
- rs2145984238
- ClinGen CA406058051
- ClinVar RCV001885552
- Ensembl rs2145984238
- Uncertain significance
- Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- AlphaMissense 0.13
- MetaLR 0.56
- MetaSVM 0.20
- PolyPhen-2 0.00
- SIFT 0.11
- MutPred 0.24
- 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)