p.Lys56dup variant of DEPDC5 (GATOR1 complex protein DEPDC5)
p.Lys56dup in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
p.Lys56dup variant details
- gnomAD 22-31760674-C-CAA
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.513
- CADD 20.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available