T3S (p.Thr3Ser) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
T3S (p.Thr3Ser) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
T3S (p.Thr3Ser) variant details
- p.Thr3Ser
- gnomAD 22-31754928-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- CADD 25.00
- PolyPhen-2 0.11
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available