S61C (p.Ser61Cys) variant of SCN2A (Q99250)
S61C (p.Ser61Cys) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
S61C (p.Ser61Cys) variant details
- p.Ser61Cys
- TOPMed rs1696487215
- gnomAD rs1696487215
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.66
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.90
- MetaSVM 1.01
- CADD 24.30
- Most common in the 1KG:JPT population (allele frequency 0.025)
- Structural context available