R15L (p.Arg15Leu) variant of SCN2A (Q99250)
R15L (p.Arg15Leu) in SCN2A (Q99250) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes structural context.
R15L (p.Arg15Leu) variant details
- p.Arg15Leu
- ExAC rs773482307
- TOPMed rs773482307
- gnomAD rs773482307
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- ESM-1b 1.00
- AlphaMissense 0.16
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available