V39I (p.Val39Ile) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
V39I (p.Val39Ile) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
V39I (p.Val39Ile) variant details
- p.Val39Ile
- gnomAD 22-31758602-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.22
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available