L13P (p.Leu13Pro) variant of SCN1B (Q07699)
L13P (p.Leu13Pro) in SCN1B (Q07699) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Developmental and epileptic encephalopathy, 52; Brugada syndrome 5; Atrial fibri. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- rs786205834
- ClinGen CA205080
- ClinVar RCV000192329
- ClinVar RCV000687916
- Conflicting interpretations
- Developmental and epileptic encephalopathy, 52; Brugada syndrome 5; Atrial fibri
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.18
- MetaLR 0.93
- MetaSVM 0.67
- CADD 25.90
- ClinVar: Conflicting classifications of pathogenicity (Developmental and epileptic encephalopathy, 52; Brugada syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 6.2e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)