S6L (p.Ser6Leu) variant of TSC2 (Tuberin)
S6L (p.Ser6Leu) in TSC2 (Tuberin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S6L (p.Ser6Leu) variant details
- p.Ser6Leu
- rs756894914
- gnomAD 16-2048587-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.422
- CADD 11.10
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available