T5S (p.Thr5Ser) variant of TSC2 (Tuberin)
T5S (p.Thr5Ser) in TSC2 (Tuberin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
T5S (p.Thr5Ser) variant details
- p.Thr5Ser
- rs2150969451
- gnomAD 16-2048613-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- CADD 16.90
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available