L58F (p.Leu58Phe) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
L58F (p.Leu58Phe) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
L58F (p.Leu58Phe) variant details
- p.Leu58Phe
- gnomAD 22-31760681-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- CADD 23.00
- PolyPhen-2 0.48
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available