I29T (p.Ile29Thr) variant of SCN2A (Nav1.2)
I29T (p.Ile29Thr) in SCN2A (Nav1.2) 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 and structural context.
I29T (p.Ile29Thr) variant details
- p.Ile29Thr
- ESP rs370552463
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.19
- MetaLR 0.91
- MetaSVM 0.90
- CADD 23.50
- Most common in the HGDP:MBUTI population (allele frequency 0.21)
- Structural context available