S359Y (p.Ser359Tyr) variant of ATP1A3 (P13637)
S359Y (p.Ser359Tyr) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of ATP1A3-associated neurological disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes structural context.
S359Y (p.Ser359Tyr) variant details
- p.Ser359Tyr
- rs2075237416
- ClinGen CA406051266
- ClinVar RCV001249730
- Ensembl rs2075237416
- Likely pathogenic
- ATP1A3-associated neurological disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- AlphaMissense 0.99
- MetaLR 0.71
- MetaSVM 0.58
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.90
- ClinVar: Likely pathogenic (ATP1A3-associated neurological disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available