E57K (p.Glu57Lys) variant of SCN2A (Q99250)
E57K (p.Glu57Lys) in SCN2A (Q99250) 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, published literature, and structural context.
E57K (p.Glu57Lys) variant details
- p.Glu57Lys
- gnomAD 2-165295992-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.61
- MetaLR 0.95
- MetaSVM 1.05
- CADD 24.60
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Literature evidence available