I41V (p.Ile41Val) variant of SCN1B (Q07699)
I41V (p.Ile41Val) in SCN1B (Q07699) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
I41V (p.Ile41Val) variant details
- p.Ile41Val
- rs72552028
- ClinGen CA302147
- ClinVar RCV001224112
- ClinVar RCV001721099
- Conflicting interpretations
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.61
- MetaLR 0.10
- MetaSVM -1.06
- CADD 25.70
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)