I38V (p.Ile38Val) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
I38V (p.Ile38Val) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
I38V (p.Ile38Val) variant details
- p.Ile38Val
- ExAC rs755036534
- gnomAD rs755036534
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available