S9S (p.Ser9Ser) variant of TSC2 (Tuberin)
S9S (p.Ser9Ser) in TSC2 (Tuberin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S9S (p.Ser9Ser) variant details
- p.Ser9Ser
- rs1596233597
- gnomAD 16-2048612-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.445
- CADD 17.20
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available