R28C (p.Arg28Cys) variant of SCN1A (P35498)
R28C (p.Arg28Cys) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Migraine, familial hemiplegic, 3; Developmental and epileptic encephalopathy 6B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R28C (p.Arg28Cys) variant details
- p.Arg28Cys
- rs754032480
- ClinGen CA317371
- cosmic curated COSV57691
- ClinVar RCV000188919
- Conflicting interpretations
- Migraine, familial hemiplegic, 3; Developmental and epileptic encephalopathy 6B
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Migraine, familial hemiplegic, 3; Developmental and epileptic en)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)