S102F (p.Ser102Phe) variant of SCN10A (Q9Y5Y9)
S102F (p.Ser102Phe) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Brugada syndrome. The record also includes variant effect predictions and structural context.
S102F (p.Ser102Phe) variant details
- p.Ser102Phe
- cosmic curated COSV10659
- TOPMed rs866597161
- gnomAD rs866597161
- Uncertain significance
- Brugada syndrome
- Missense
- MetaLR 0.36
- MetaSVM -0.52
- SIFT 1.00
- ClinVar: Uncertain significance (Brugada syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available