S6F (p.Ser6Phe) variant of TSC2 (Tuberin)
S6F (p.Ser6Phe) in TSC2 (Tuberin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S6F (p.Ser6Phe) variant details
- p.Ser6Phe
- rs780829685
- gnomAD 16-2048596-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- CADD 10.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available