P50S (p.Pro50Ser) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
P50S (p.Pro50Ser) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. 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.
P50S (p.Pro50Ser) variant details
- p.Pro50Ser
- TOPMed rs1457991619
- gnomAD rs1457991619
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- CADD 24.70
- PolyPhen-2 0.79
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available