R937C (p.Arg937Cys) variant of ATP1A2 (P50993)
R937C (p.Arg937Cys) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Alternating hemiplegia of childhood 1; Migraine, familial hemipleg. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R937C (p.Arg937Cys) variant details
- p.Arg937Cys
- rs1558009266
- ClinGen CA343252807
- ClinVar RCV001774531
- ClinVar RCV001814601
- Likely pathogenic
- not provided; Alternating hemiplegia of childhood 1; Migraine, familial hemipleg
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.80
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Alternating hemiplegia of childhood 1; Migraine, f)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)