R582Q (p.Arg582Gln) variant of CACNA1A (O00555)
R582Q (p.Arg582Gln) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Migraine, familial hemiplegic, 1; Spinocerebellar ataxia type 6; Developmental a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R582Q (p.Arg582Gln) variant details
- p.Arg582Gln
- rs121908217
- ClinGen CA119653
- cosmic curated COSV10080
- ClinVar RCV000009028
- Pathogenic
- Migraine, familial hemiplegic, 1; Spinocerebellar ataxia type 6; Developmental a
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.96
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Migraine, familial hemiplegic, 1; Spinocerebellar ataxia type 6;)
- EBI: Pathogenic (in FHM1 and SCA6)
- UniProt: Pathogenic (in FHM1 and SCA6)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia. (PMID 10408534)
- Cited in: Missense CACNA1A mutation causing episodic ataxia type 2. (PMID 11176968)