R28H (p.Arg28His) variant of SCN2A (Q99250)
R28H (p.Arg28His) in SCN2A (Q99250) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R28H (p.Arg28His) variant details
- p.Arg28His
- rs1007052146
- ClinGen CA59719605
- NCI-TCGA Cosmic COSV5183
- cosmic curated COSV51833
- Conflicting interpretations
- Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.16
- MetaLR 0.97
- MetaSVM 0.69
- CADD 29.70
- ClinVar: Conflicting classifications of pathogenicity (Developmental and epileptic encephalopathy, 11; Seizures, benign)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)