F64L (p.Phe64Leu) variant of SCN2A (Q99250)
F64L (p.Phe64Leu) 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, published literature, and structural context.
F64L (p.Phe64Leu) variant details
- p.Phe64Leu
- gnomAD 2-165296013-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.73
- ESM-1b 0.00
- AlphaMissense 0.91
- MetaLR 0.90
- MetaSVM 0.94
- CADD 23.90
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available
- Literature evidence available