R1002Q (p.Arg1002Gln) variant of ATP1A2 (P50993)
R1002Q (p.Arg1002Gln) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Migraine, familial hemiplegic, 2; Familial hemiplegic migraine. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R1002Q (p.Arg1002Gln) variant details
- p.Arg1002Gln
- rs757310141
- ClinGen CA1194905
- cosmic curated COSV63403
- ClinVar RCV000710693
- Pathogenic/Likely pathogenic
- not provided; Migraine, familial hemiplegic, 2; Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.87
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (not provided; Migraine, familial hemiplegic, 2; Familial hemiple)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)