L23V (p.Leu23Val) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
L23V (p.Leu23Val) 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.
L23V (p.Leu23Val) variant details
- p.Leu23Val
- gnomAD 22-31758554-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- CADD 22.90
- PolyPhen-2 0.99
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available