E13G (p.Glu13Gly) variant of TSC2 (Tuberin)
E13G (p.Glu13Gly) in TSC2 (Tuberin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
E13G (p.Glu13Gly) variant details
- p.Glu13Gly
- gnomAD rs1290177807
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.79
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available