Q75H (p.Gln75His) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
Q75H (p.Gln75His) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data.
Q75H (p.Gln75His) variant details
- p.Gln75His
- ExAC rs761342718
- TOPMed rs761342718
- gnomAD rs761342718
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- CADD 24.30
- PolyPhen-2 0.89
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)