A7T (p.Ala7Thr) variant of SCN8A (Q9UQD0)
A7T (p.Ala7Thr) in SCN8A (Q9UQD0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A7T (p.Ala7Thr) variant details
- p.Ala7Thr
- gnomAD 12-51662836-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.24
- MetaLR 0.86
- MetaSVM 0.81
- CADD 24.90
- Most common in the Non-Finnish European population (allele frequency 0.00049)
- Structural context available
- Literature evidence available