G947E (p.Gly947Glu) variant of ATP1A3 (P13637)
G947E (p.Gly947Glu) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Alternating hemiplegia of childhood 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
G947E (p.Gly947Glu) variant details
- p.Gly947Glu
- rs886041431
- ClinGen CA10603453
- ClinVar RCV000340517
- ClinVar RCV001775110
- Pathogenic
- not provided; Alternating hemiplegia of childhood 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.02
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic (not provided; Alternating hemiplegia of childhood 2)
- EBI: Pathogenic (in AHC2)
- UniProt: Pathogenic (in AHC2)
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)