T72I (p.Thr72Ile) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
T72I (p.Thr72Ile) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
T72I (p.Thr72Ile) variant details
- p.Thr72Ile
- gnomAD 22-31764996-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- CADD 25.60
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available