V55F (p.Val55Phe) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
V55F (p.Val55Phe) 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.
V55F (p.Val55Phe) variant details
- p.Val55Phe
- ExAC rs769423746
- gnomAD rs769423746
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available