R19S (p.Arg19Ser) variant of SCN2A (Q99250)
R19S (p.Arg19Ser) in SCN2A (Q99250) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
R19S (p.Arg19Ser) variant details
- p.Arg19Ser
- rs1409575197
- gnomAD rs1409575197
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.60
- ESM-1b 0.70
- AlphaMissense 0.32
- MetaLR 0.87
- MetaSVM 0.88
- CADD 22.70
- UniProt: Variant assessed as somatic; moderate impact. (in dbSNP:rs17183814)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available