T93T (p.Thr93Thr) variant of SCN8A (Q9UQD0)
T93T (p.Thr93Thr) in SCN8A (Q9UQD0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
T93T (p.Thr93Thr) variant details
- p.Thr93Thr
- rs2138707894
- gnomAD 12-51684176-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.581
- CADD 15.10
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available