E22E (p.Glu22Glu) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
E22E (p.Glu22Glu) in DEPDC5 (GATOR1 complex protein DEPDC5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E22E (p.Glu22Glu) variant details
- p.Glu22Glu
- rs749841723
- gnomAD 22-31758553-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.439
- CADD 8.35
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available