I29I (p.Ile29Ile) variant of SCN2A (Q99250)
I29I (p.Ile29Ile) in SCN2A (Q99250) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
I29I (p.Ile29Ile) variant details
- p.Ile29Ile
- gnomAD 2-165295910-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.591
- CADD 12.30
- Most common in the South Asian population (allele frequency 0.00056)
- Structural context available
- Literature evidence available