G10D (p.Gly10Asp) variant of SCN1B (Q07699)
G10D (p.Gly10Asp) in SCN1B (Q07699) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Brugada syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
G10D (p.Gly10Asp) variant details
- p.Gly10Asp
- rs1555720384
- ClinGen CA405327834
- ClinVar RCV000536761
- Ensembl rs1555720384
- Uncertain significance
- Brugada syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.65
- MetaLR 0.91
- MetaSVM 0.67
- CADD 23.60
- ClinVar: Uncertain significance (Brugada syndrome 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.4e-06)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)