G855R (p.Gly855Arg) variant of ATP1A2 (P50993)
G855R (p.Gly855Arg) 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; Alternating hemiplegia of childhood 1; Migraine, f. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G855R (p.Gly855Arg) variant details
- p.Gly855Arg
- rs1553245857
- ClinGen CA343251714
- NCI-TCGA Cosmic COSV6340
- cosmic curated COSV63404
- Pathogenic
- Familial hemiplegic migraine; Alternating hemiplegia of childhood 1; Migraine, f
- Missense
- Variant Prioritization Score for Impact Estimate 0.967
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.11
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.95
- ClinVar: Pathogenic (Familial hemiplegic migraine; Alternating hemiplegia of childhoo)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)