G715R (p.Gly715Arg) variant of ATP1A2 (P50993)
G715R (p.Gly715Arg) 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; not provided; Migraine, familial hemiplegic, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G715R (p.Gly715Arg) variant details
- p.Gly715Arg
- rs1553245771
- ClinGen CA343248929
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10651
- Pathogenic
- Familial hemiplegic migraine; not provided; Migraine, familial hemiplegic, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.976
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic (Familial hemiplegic migraine; not provided; Migraine, familial h)
- EBI: Pathogenic (in FHM2)
- UniProt: Pathogenic (in FHM2)
- Structural context available
- Cited in: Prolonged sporadic hemiplegic migraine associated with a novel de novo missense ATP1A2 gene mutation. (PMID 21352219)
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)