Q920R (p.Gln920Arg) variant of ATP1A3 (P13637)
Q920R (p.Gln920Arg) 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.
Q920R (p.Gln920Arg) variant details
- p.Gln920Arg
- rs2075071667
- ClinGen CA406036055
- ClinVar RCV001330417
- Ensembl rs2075071667
- Likely pathogenic
- Alternating hemiplegia of childhood 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.07
- PolyPhen-2 0.89
- SIFT 0.00
- EVE 0.48
- ClinVar: Likely pathogenic (Alternating hemiplegia of childhood 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)