R65Q (p.Arg65Gln) variant of ATP1A2 (P50993)
R65Q (p.Arg65Gln) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hemiplegic migraine. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R65Q (p.Arg65Gln) variant details
- p.Arg65Gln
- rs187733403
- ClinGen CA1194140
- ClinVar RCV003747494
- 1000Genomes rs187733403
- Uncertain significance
- Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.43
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.69
- ClinVar: Uncertain significance (Familial hemiplegic migraine)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)