G18D (p.Gly18Asp) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
G18D (p.Gly18Asp) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
G18D (p.Gly18Asp) variant details
- p.Gly18Asp
- gnomAD 22-31754974-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- CADD 27.70
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available