R41L (p.Arg41Leu) variant of SCN2A (Q99250)
R41L (p.Arg41Leu) in SCN2A (Q99250) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Seizures, benign familial infantile, 3; Developmental and epilepti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R41L (p.Arg41Leu) variant details
- p.Arg41Leu
- rs754993031
- ClinGen CA349010054
- ClinVar RCV001920987
- ClinVar RCV003318703
- Uncertain significance
- not provided; Seizures, benign familial infantile, 3; Developmental and epilepti
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.82
- MetaSVM 0.06
- CADD 22.60
- ClinVar: Uncertain significance (not provided; Seizures, benign familial infantile, 3; Developmen)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)