E32E (p.Glu32Glu) variant of TSC2 (Tuberin)
E32E (p.Glu32Glu) in TSC2 (Tuberin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E32E (p.Glu32Glu) variant details
- p.Glu32Glu
- rs1567380772
- gnomAD 16-2048711-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.405
- CADD 16.30
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available