T3R (p.Thr3Arg) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
T3R (p.Thr3Arg) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
T3R (p.Thr3Arg) variant details
- p.Thr3Arg
- TOPMed rs1388342675
- gnomAD rs1388342675
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- CADD 25.40
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available