F16C (p.Phe16Cys) variant of SCN2A (Q99250)
F16C (p.Phe16Cys) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
F16C (p.Phe16Cys) variant details
- p.Phe16Cys
- ExAC rs763488120
- gnomAD rs763488120
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.50
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.83
- MetaSVM 0.97
- CADD 24.40
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available