V8L (p.Val8Leu) variant of SCN1B (Q07699)
V8L (p.Val8Leu) in SCN1B (Q07699) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Brugada syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
V8L (p.Val8Leu) variant details
- p.Val8Leu
- rs786205832
- ClinGen CA302169
- ClinVar RCV000171047
- ClinVar RCV003765068
- Uncertain significance
- not provided; Brugada syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.56
- MetaSVM -0.28
- CADD 17.60
- ClinVar: Uncertain significance (not provided; Brugada syndrome 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)