E60G (p.Glu60Gly) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
E60G (p.Glu60Gly) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
E60G (p.Glu60Gly) variant details
- p.Glu60Gly
- gnomAD 22-31760688-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- CADD 27.00
- PolyPhen-2 0.08
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available