I29F (p.Ile29Phe) variant of SCN2A (Q99250)
I29F (p.Ile29Phe) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
I29F (p.Ile29Phe) variant details
- p.Ile29Phe
- gnomAD 2-165295908-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 0.25
- MetaLR 0.90
- MetaSVM 0.86
- CADD 23.30
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Literature evidence available