R2G (p.Arg2Gly) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
R2G (p.Arg2Gly) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
R2G (p.Arg2Gly) variant details
- p.Arg2Gly
- gnomAD rs1392887985
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- CADD 25.20
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available