R202Q (p.Arg202Gln) variant of ATP1A2 (P50993)
R202Q (p.Arg202Gln) 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. 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.
R202Q (p.Arg202Gln) variant details
- p.Arg202Gln
- rs2524857474
- ClinGen CA343234040
- ClinVar RCV003584110
- Pathogenic
- Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.89
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Familial hemiplegic migraine)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)