G366V (p.Gly366Val) variant of ATP1A2 (P50993)
G366V (p.Gly366Val) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial hemiplegic migraine. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
G366V (p.Gly366Val) variant details
- p.Gly366Val
- rs1057518514
- ClinGen CA343239374
- ClinVar RCV001384299
- Ensembl rs1057518514
- Pathogenic
- Familial hemiplegic migraine
- 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: Pathogenic (Familial hemiplegic migraine)
- EBI: Pathogenic (in DEE98)
- UniProt: Pathogenic (in DEE98)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)