R3C (p.Arg3Cys) variant of ATP1A2 (P50993)
R3C (p.Arg3Cys) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Familial hemiplegic migraine. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R3C (p.Arg3Cys) variant details
- p.Arg3Cys
- rs755450946
- ClinGen CA343224913
- ClinVar RCV002016314
- ClinVar RCV005250231
- Uncertain significance
- not provided; Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.44
- CADD 23.70
- PolyPhen-2 0.25
- SIFT 0.17
- ClinVar: Uncertain significance (not provided; Familial hemiplegic migraine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)