Q3Q (p.Gln3Gln) variant of SCN2A (Q99250)
Q3Q (p.Gln3Gln) in SCN2A (Q99250) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
Q3Q (p.Gln3Gln) variant details
- p.Gln3Gln
- rs1435672829
- gnomAD 2-165295832-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.212
- CADD 6.69
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Literature evidence available