V55L (p.Val55Leu) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
V55L (p.Val55Leu) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
V55L (p.Val55Leu) variant details
- p.Val55Leu
- ExAC rs769423746
- gnomAD rs769423746
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- CADD 25.70
- PolyPhen-2 0.91
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available