R15C (p.Arg15Cys) variant of SCN2A (Q99250)
R15C (p.Arg15Cys) in SCN2A (Q99250) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R15C (p.Arg15Cys) variant details
- p.Arg15Cys
- rs551347418
- ClinGen CA1939539
- NCI-TCGA Cosmic COSV5185
- cosmic curated COSV51853
- Conflicting interpretations
- Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.09
- MetaLR 0.92
- MetaSVM 0.87
- CADD 23.90
- ClinVar: Conflicting classifications of pathogenicity (Seizures, benign familial infantile, 3; Developmental and epilep)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)