V8A (p.Val8Ala) variant of SCN1B (Q07699)
V8A (p.Val8Ala) 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; Brugada syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V8A (p.Val8Ala) variant details
- p.Val8Ala
- rs786205833
- ClinGen CA302171
- NCI-TCGA Cosmic COSV9938
- cosmic curated COSV99386
- Uncertain significance
- Cardiovascular phenotype; not provided; Brugada syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.76
- MetaSVM 0.09
- CADD 23.30
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Brugada syndrome 5)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0001)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)