S9C (p.Ser9Cys) variant of TSC2 (Tuberin)
S9C (p.Ser9Cys) 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.
S9C (p.Ser9Cys) variant details
- p.Ser9Cys
- rs1359835338
- gnomAD 16-2048605-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- CADD 7.46
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available