E389K (p.Glu389Lys) variant of ATP1A3 (P13637)
E389K (p.Glu389Lys) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Alternating hemiplegia of childhood 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
E389K (p.Glu389Lys) variant details
- p.Glu389Lys
- rs1555863623
- ClinGen CA406050823
- cosmic curated COSV10013
- ClinVar RCV001844305
- Pathogenic
- Alternating hemiplegia of childhood 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- CADD 23.00
- PolyPhen-2 0.05
- SIFT 0.06
- ClinVar: Pathogenic (Alternating hemiplegia of childhood 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)