T335K (p.Thr335Lys) variant of ATP1A3 (P13637)
T335K (p.Thr335Lys) 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 0.85 / 1. The record also includes published literature and structural context.
T335K (p.Thr335Lys) variant details
- p.Thr335Lys
- rs1131691940
- ClinGen CA406051733
- ClinVar RCV000504338
- gnomAD rs1131691940
- Likely pathogenic
- Alternating hemiplegia of childhood 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- AlphaMissense 0.82
- MetaLR 0.81
- MetaSVM 0.79
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Likely pathogenic (Alternating hemiplegia of childhood 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)