Q54H (p.Gln54His) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
Q54H (p.Gln54His) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
Q54H (p.Gln54His) variant details
- p.Gln54His
- TOPMed rs1329749085
- gnomAD rs1329749085
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- CADD 22.10
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available