S199R (p.Ser199Arg) variant of SCN5A (Nav1.5)
S199R (p.Ser199Arg) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
S199R (p.Ser199Arg) variant details
- p.Ser199Arg
- cosmic curated COSV10520
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Structural context available