V76M (p.Val76Met) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
V76M (p.Val76Met) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
V76M (p.Val76Met) variant details
- p.Val76Met
- gnomAD 22-31765007-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- CADD 23.90
- PolyPhen-2 0.54
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available