G10R (p.Gly10Arg) variant of SCN1B (Q07699)
G10R (p.Gly10Arg) in SCN1B (Q07699) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
G10R (p.Gly10Arg) variant details
- p.Gly10Arg
- 1000Genomes rs72552027
- ExAC rs72552027
- gnomAD rs72552027
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.58
- ESM-1b 0.78
- AlphaMissense 0.84
- MetaLR 0.90
- MetaSVM 0.60
- CADD 23.70
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available