L19L (p.Leu19Leu) variant of TSC2 (Tuberin)
L19L (p.Leu19Leu) in TSC2 (Tuberin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
L19L (p.Leu19Leu) variant details
- p.Leu19Leu
- rs2150971171
- gnomAD 16-2048670-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.151
- CADD 9.88
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available