E29Q (p.Glu29Gln) variant of SCN1B (Q07699)
E29Q (p.Glu29Gln) in SCN1B (Q07699) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
E29Q (p.Glu29Gln) variant details
- p.Glu29Gln
- rs767384862
- ClinGen CA302145
- ClinVar RCV000171034
- ClinVar RCV002444687
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.73
- ESM-1b 0.00
- AlphaMissense 0.67
- MetaLR 0.87
- MetaSVM 0.83
- CADD 28.50
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available