T90T (p.Thr90Thr) variant of SCN8A (Q9UQD0)
T90T (p.Thr90Thr) in SCN8A (Q9UQD0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
T90T (p.Thr90Thr) variant details
- p.Thr90Thr
- rs371712630
- gnomAD 12-51663087-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.292
- CADD 10.50
- Most common in the HGDP:BEDOUIN population (allele frequency 0.06)
- Structural context available
- Literature evidence available