E20K (p.Glu20Lys) variant of SCN2A (Q99250)
E20K (p.Glu20Lys) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
E20K (p.Glu20Lys) variant details
- p.Glu20Lys
- gnomAD rs1165991893
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.21
- MetaLR 0.95
- MetaSVM 1.11
- CADD 26.60
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available