H12Q (p.His12Gln) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
H12Q (p.His12Gln) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
H12Q (p.His12Gln) variant details
- p.His12Gln
- TOPMed rs2075192968
- gnomAD rs2075192968
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- CADD 24.80
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available