R41C (p.Arg41Cys) variant of SCN2A (Q99250)
R41C (p.Arg41Cys) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R41C (p.Arg41Cys) variant details
- p.Arg41Cys
- rs747086776
- ClinGen CA1939550
- NCI-TCGA Cosmic COSV5183
- cosmic curated COSV51837
- Conflicting interpretations
- Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.50
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.89
- MetaSVM 0.71
- CADD 24.20
- ClinVar: Conflicting classifications of pathogenicity (Seizures, benign familial infantile, 3; Developmental and epilep)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)