Q63* (p.Gln63Ter) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
Q63* (p.Gln63Ter) in DEPDC5 (GATOR1 complex protein DEPDC5) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
Q63* (p.Gln63Ter) variant details
- p.Gln63Ter
- rs372718805
- ClinGen CA10195858
- cosmic curated COSV99836
- ClinVar RCV001942426
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.851
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available