C364R (p.Cys364Arg) variant of ATP1A3 (P13637)
C364R (p.Cys364Arg) 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 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
C364R (p.Cys364Arg) variant details
- p.Cys364Arg
- rs2075237136
- ClinGen CA406051182
- ClinVar RCV001260491
- Ensembl rs2075237136
- Likely pathogenic
- Alternating hemiplegia of childhood 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- AlphaMissense 1.00
- MetaLR 0.82
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Likely pathogenic (Alternating hemiplegia of childhood 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)