L52L (p.Leu52Leu) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
L52L (p.Leu52Leu) in DEPDC5 (GATOR1 complex protein DEPDC5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L52L (p.Leu52Leu) variant details
- p.Leu52Leu
- rs1388547069
- gnomAD 22-31760665-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.517
- CADD 8.52
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available