I41F (p.Ile41Phe) variant of SCN1B (Q07699)
I41F (p.Ile41Phe) in SCN1B (Q07699) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
I41F (p.Ile41Phe) variant details
- p.Ile41Phe
- 1000Genomes rs72552028
- ESP rs72552028
- ExAC rs72552028
- TOPMed rs72552028
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.28
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.11
- MetaSVM -1.03
- CADD 28.60
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available