G855E (p.Gly855Glu) variant of ATP1A2 (P50993)
G855E (p.Gly855Glu) 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; Migraine, familial hemiplegic, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G855E (p.Gly855Glu) variant details
- p.Gly855Glu
- rs149144720
- ClinGen CA31501896
- cosmic curated COSV63405
- ClinVar RCV000635222
- Pathogenic
- Familial hemiplegic migraine; Migraine, familial hemiplegic, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.972
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.90
- ClinVar: Pathogenic (Familial hemiplegic migraine; Migraine, familial hemiplegic, 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)