G10S (p.Gly10Ser) variant of SCN1B (Q07699)
G10S (p.Gly10Ser) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G10S (p.Gly10Ser) variant details
- p.Gly10Ser
- rs72552027
- ClinGen CA302173
- ClinVar RCV000171049
- ClinVar RCV000254455
- Conflicting interpretations
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.90
- MetaSVM 0.57
- CADD 23.60
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ESN population (allele frequency 0.029)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)