G18S (p.Gly18Ser) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
G18S (p.Gly18Ser) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
G18S (p.Gly18Ser) variant details
- p.Gly18Ser
- gnomAD rs1357795419
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- CADD 23.40
- PolyPhen-2 0.38
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available