G366D (p.Gly366Asp) variant of ATP1A2 (P50993)
G366D (p.Gly366Asp) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hemiplegic migraine; Alternating hemiplegia of childhood 1; Migraine, f. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
G366D (p.Gly366Asp) variant details
- p.Gly366Asp
- rs1057518514
- ClinGen CA343239371
- ClinVar RCV000687131
- ClinVar RCV000764993
- Uncertain significance
- Familial hemiplegic migraine; Alternating hemiplegia of childhood 1; Migraine, f
- Missense
- Variant Prioritization Score for Impact Estimate 0.946
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Uncertain significance (Familial hemiplegic migraine; Alternating hemiplegia of childhoo)
- EBI: Pathogenic (in DEE98)
- UniProt: Pathogenic (in DEE98)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)