S9F (p.Ser9Phe) variant of TSC2 (Tuberin)
S9F (p.Ser9Phe) in TSC2 (Tuberin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S9F (p.Ser9Phe) variant details
- p.Ser9Phe
- rs1423798557
- gnomAD 16-2048611-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- CADD 16.70
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available