R28H (p.Arg28His) variant of SCN1A (P35498)
R28H (p.Arg28His) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Generalized epilepsy with febrile seizures plus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R28H (p.Arg28His) variant details
- p.Arg28His
- rs398123601
- ClinGen CA221620
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10031
- Likely benign
- Generalized epilepsy with febrile seizures plus
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Likely benign (Generalized epilepsy with febrile seizures plus)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)