S61Y (p.Ser61Tyr) variant of SCN2A (Q99250)
S61Y (p.Ser61Tyr) 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 0.64 / 1. The record also includes structural context.
S61Y (p.Ser61Tyr) variant details
- p.Ser61Tyr
- NCI-TCGA TCGA novel
- TOPMed rs1696487215
- gnomAD rs1696487215
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- ESM-1b 1.00
- AlphaMissense 0.21
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available