R41H (p.Arg41His) variant of SCN2A (Q99250)
R41H (p.Arg41His) 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; SCN2A-related disorder; Developmental an. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R41H (p.Arg41His) variant details
- p.Arg41His
- rs754993031
- ClinGen CA1939551
- NCI-TCGA Cosmic COSV5184
- cosmic curated COSV51849
- Conflicting interpretations
- Seizures, benign familial infantile, 3; SCN2A-related disorder; Developmental an
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.73
- MetaSVM -0.24
- CADD 21.80
- ClinVar: Conflicting classifications of pathogenicity (Seizures, benign familial infantile, 3; SCN2A-related disorder;)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MBUTI population (allele frequency 0.21)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)