E32Q (p.Glu32Gln) variant of SCN2A (Q99250)
E32Q (p.Glu32Gln) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
E32Q (p.Glu32Gln) variant details
- p.Glu32Gln
- gnomAD 2-165295917-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.20
- MetaLR 0.94
- MetaSVM 1.07
- CADD 26.90
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available