Q75E (p.Gln75Glu) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
Q75E (p.Gln75Glu) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and published literature.
Q75E (p.Gln75Glu) variant details
- p.Gln75Glu
- gnomAD 22-31765004-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- CADD 22.80
- PolyPhen-2 0.61
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available