G301R (p.Gly301Arg) variant of ATP1A2 (P50993)
G301R (p.Gly301Arg) 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 0.80 / 1. The record also includes published literature and structural context.
G301R (p.Gly301Arg) variant details
- p.Gly301Arg
- rs121918612
- ClinGen CA256635
- ClinVar RCV000013785
- ClinVar RCV001533152
- Pathogenic
- Familial hemiplegic migraine; Migraine, familial hemiplegic, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- AlphaMissense 1.00
- MetaLR 0.67
- MetaSVM 0.66
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (Familial hemiplegic migraine; Migraine, familial hemiplegic, 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs. (PMID 15459825)
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)