R3S (p.Arg3Ser) variant of SCN1B (Q07699)
R3S (p.Arg3Ser) in SCN1B (Q07699) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R3S (p.Arg3Ser) variant details
- p.Arg3Ser
- 1000Genomes rs533710683
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.74
- MetaSVM 0.09
- CADD 14.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available