R15C (p.Arg15Cys) variant of SCN10A (Q9Y5Y9)
R15C (p.Arg15Cys) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R15C (p.Arg15Cys) variant details
- p.Arg15Cys
- ExAC rs754392803
- TOPMed rs754392803
- gnomAD rs754392803
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.64
- MetaLR 0.89
- MetaSVM 0.94
- CADD 25.00
- PolyPhen-2 0.85
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available