R593Q (p.Arg593Gln) variant of ATP1A2 (P50993)
R593Q (p.Arg593Gln) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial hemiplegic migraine; not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R593Q (p.Arg593Gln) variant details
- p.Arg593Gln
- rs1553245178
- ClinGen CA343244417
- cosmic curated COSV63405
- ClinVar RCV000623316
- Conflicting interpretations
- Familial hemiplegic migraine; not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.90
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Familial hemiplegic migraine; not provided; Inborn genetic disea)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria. (PMID 33880529)
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)