L22F (p.Leu22Phe) variant of SCN2A (Nav1.2)
L22F (p.Leu22Phe) in SCN2A (Nav1.2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
L22F (p.Leu22Phe) variant details
- p.Leu22Phe
- TOPMed rs1449575863
- gnomAD rs1449575863
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.42
- MetaLR 0.96
- MetaSVM 1.09
- CADD 25.10
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available