G20G (p.Gly20Gly) variant of TSC2 (Tuberin)
G20G (p.Gly20Gly) in TSC2 (Tuberin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
G20G (p.Gly20Gly) variant details
- p.Gly20Gly
- rs1060504108
- gnomAD 16-2048675-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.155
- CADD 10.50
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available