E60E (p.Glu60Glu) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
E60E (p.Glu60Glu) in DEPDC5 (GATOR1 complex protein DEPDC5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E60E (p.Glu60Glu) variant details
- p.Glu60Glu
- rs550525739
- gnomAD 22-31760689-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.25
- CADD 9.05
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available