R834L (p.Arg834Leu) variant of ATP1A2 (P50993)
R834L (p.Arg834Leu) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial hemiplegic migraine. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
R834L (p.Arg834Leu) variant details
- p.Arg834Leu
- rs2101995864
- ClinGen CA343251447
- ClinVar RCV002825174
- Likely pathogenic
- Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Likely pathogenic (Familial hemiplegic migraine)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)