R834Q (p.Arg834Gln) variant of ATP1A2 (P50993)
R834Q (p.Arg834Gln) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R834Q (p.Arg834Gln) variant details
- p.Arg834Gln
- rs2101995864
- ClinGen CA343251445
- NCI-TCGA Cosmic COSV6340
- cosmic curated COSV63403
- Pathogenic
- Familial hemiplegic migraine; Migraine, familial hemiplegic, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.85
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.08
- CADD 29.10
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Familial hemiplegic migraine; Migraine, familial hemiplegic, 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)