S137Y (p.Ser137Tyr) variant of ATP1A3 (P13637)
S137Y (p.Ser137Tyr) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Dystonia 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
S137Y (p.Ser137Tyr) variant details
- p.Ser137Tyr
- rs542652468
- ClinGen CA345997
- ClinVar RCV001206535
- UniProt VAR 068936
- Pathogenic
- Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- AlphaMissense 0.92
- MetaLR 0.86
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.50
- ClinVar: Pathogenic (Dystonia 12)
- EBI: Pathogenic (in AHC2)
- UniProt: Pathogenic (in AHC2)
- Structural context available
- Cited in: De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. (PMID 22842232)
- Cited in: Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain… (PMID 24631656)