G10E (p.Gly10Glu) variant of TSC2 (Tuberin)
G10E (p.Gly10Glu) in TSC2 (Tuberin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
G10E (p.Gly10Glu) variant details
- p.Gly10Glu
- rs148518100
- gnomAD 16-2048590-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- CADD 8.44
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available
- Literature evidence available