G366S (p.Gly366Ser) variant of ATP1A2 (P50993)
G366S (p.Gly366Ser) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Developmental and epileptic encephalopathy 98; Familial hemiplegic migraine; not. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
G366S (p.Gly366Ser) variant details
- p.Gly366Ser
- rs1553244883
- ClinGen CA343239366
- ClinVar RCV000585534
- ClinVar RCV003227494
- Pathogenic/Likely pathogenic
- Developmental and epileptic encephalopathy 98; Familial hemiplegic migraine; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- AlphaMissense 0.99
- MetaLR 0.25
- MetaSVM -0.69
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic/Likely pathogenic (Developmental and epileptic encephalopathy 98; Familial hemipleg)
- EBI: Pathogenic (in DEE98)
- UniProt: Pathogenic (in DEE98)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)