P92T (p.Pro92Thr) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
P92T (p.Pro92Thr) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
P92T (p.Pro92Thr) variant details
- p.Pro92Thr
- ExAC rs774294197
- TOPMed rs774294197
- gnomAD rs774294197
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- CADD 24.80
- PolyPhen-2 0.96
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available