I318M (p.Ile318Met) variant of ATP1A3 (P13637)
I318M (p.Ile318Met) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Alternating hemiplegia of childhood 2; Dystonia 12; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
I318M (p.Ile318Met) variant details
- p.Ile318Met
- rs529241207
- ClinGen CA406052240
- ClinVar RCV001257081
- ClinVar RCV002560179
- Pathogenic/Likely pathogenic
- Alternating hemiplegia of childhood 2; Dystonia 12; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- AlphaMissense 0.84
- MetaLR 0.84
- MetaSVM 0.70
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Pathogenic/Likely pathogenic (Alternating hemiplegia of childhood 2; Dystonia 12; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)