G18A (p.Gly18Ala) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
G18A (p.Gly18Ala) in DEPDC5 (GATOR1 complex protein DEPDC5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G18A (p.Gly18Ala) variant details
- p.Gly18Ala
- rs1569505090
- gnomAD 22-31754969-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.392
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available