L11L (p.Leu11Leu) variant of TSC2 (Tuberin)
L11L (p.Leu11Leu) in TSC2 (Tuberin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L11L (p.Leu11Leu) variant details
- p.Leu11Leu
- rs978517404
- gnomAD 16-2048646-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.269
- AlphaMissense 0.17
- MetaLR 0.30
- MetaSVM -0.59
- CADD 9.52
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available