R15H (p.Arg15His) variant of SCN2A (Q99250)
R15H (p.Arg15His) in SCN2A (Q99250) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R15H (p.Arg15His) variant details
- p.Arg15His
- rs773482307
- ClinGen CA1939541
- cosmic curated COSV51833
- ClinVar RCV003077224
- Likely benign
- Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.07
- MetaLR 0.87
- MetaSVM 0.71
- CADD 22.80
- ClinVar: Likely benign (Developmental and epileptic encephalopathy, 11; Seizures, benign)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)