L62I (p.Leu62Ile) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
L62I (p.Leu62Ile) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L62I (p.Leu62Ile) variant details
- p.Leu62Ile
- gnomAD 22-31760693-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- CADD 23.80
- PolyPhen-2 0.91
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available