D21E (p.Asp21Glu) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
D21E (p.Asp21Glu) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
D21E (p.Asp21Glu) variant details
- p.Asp21Glu
- gnomAD 22-31758550-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- CADD 23.00
- PolyPhen-2 0.82
- SIFT 0.45
- Population evidence available
- Structural context available
- Literature evidence available