F17L (p.Phe17Leu) variant of SCN2A (Q99250)
F17L (p.Phe17Leu) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
F17L (p.Phe17Leu) variant details
- p.Phe17Leu
- gnomAD 2-165295874-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.67
- ESM-1b 0.90
- AlphaMissense 0.92
- MetaLR 0.88
- MetaSVM 0.65
- CADD 22.10
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Literature evidence available