C333Y (p.Cys333Tyr) variant of ATP1A3 (P13637)
C333Y (p.Cys333Tyr) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Alternating hemiplegia of childhood. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes structural context.
C333Y (p.Cys333Tyr) variant details
- p.Cys333Tyr
- rs606231430
- ClinGen CA406051755
- ClinVar RCV002284134
- Likely pathogenic
- Alternating hemiplegia of childhood
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- AlphaMissense 0.97
- MetaLR 0.81
- MetaSVM 0.79
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Likely pathogenic (Alternating hemiplegia of childhood)
- EBI: Likely pathogenic (in AHC2)
- UniProt: Likely pathogenic (in AHC2)
- Structural context available