R834G (p.Arg834Gly) variant of ATP1A2 (P50993)
R834G (p.Arg834Gly) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hemiplegic migraine. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
R834G (p.Arg834Gly) variant details
- p.Arg834Gly
- rs755310507
- ClinGen CA343251443
- ClinVar RCV001346774
- ExAC rs755310507
- Uncertain significance
- Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- AlphaMissense 0.99
- MetaLR 0.93
- MetaSVM 0.98
- PolyPhen-2 0.84
- SIFT 0.01
- EVE 0.83
- ClinVar: Uncertain significance (Familial hemiplegic migraine)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)