R15S (p.Arg15Ser) variant of SCN2A (Q99250)
R15S (p.Arg15Ser) 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 0.75 / 1. The record also includes population frequency data and structural context.
R15S (p.Arg15Ser) variant details
- p.Arg15Ser
- 1000Genomes rs551347418
- ExAC rs551347418
- gnomAD rs551347418
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.26
- MetaLR 0.90
- MetaSVM 0.85
- CADD 24.20
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available