D46D (p.Asp46Asp) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
D46D (p.Asp46Asp) in DEPDC5 (GATOR1 complex protein DEPDC5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
D46D (p.Asp46Asp) variant details
- p.Asp46Asp
- gnomAD 22-31758625-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.28
- CADD 9.36
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available