K93K (p.Lys93Lys) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
K93K (p.Lys93Lys) in DEPDC5 (GATOR1 complex protein DEPDC5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
K93K (p.Lys93Lys) variant details
- p.Lys93Lys
- gnomAD 22-31765060-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.634
- CADD 31.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available