L18L (p.Leu18Leu) variant of TSC2 (Tuberin)
L18L (p.Leu18Leu) in TSC2 (Tuberin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
L18L (p.Leu18Leu) variant details
- p.Leu18Leu
- rs2150971145
- gnomAD 16-2048669-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.095
- CADD 2.03
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available