E13del (p.Glu13del) variant of TSC2 (Tuberin)
E13del (p.Glu13del) in TSC2 (Tuberin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
E13del (p.Glu13del) variant details
- rs778509364
- gnomAD 16-2048649-AAGG-A
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.598
- CADD 22.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available