Y86* (p.Tyr86Ter) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
Y86* (p.Tyr86Ter) in DEPDC5 (GATOR1 complex protein DEPDC5) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
Y86* (p.Tyr86Ter) variant details
- p.Tyr86Ter
- 1000Genomes rs201609075
- ESP rs201609075
- ExAC rs201609075
- TOPMed rs201609075
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.69
- CADD 34.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available