Y7* (p.Tyr7Ter) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
Y7* (p.Tyr7Ter) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
Y7* (p.Tyr7Ter) variant details
- p.Tyr7Ter
- rs768241563
- ClinGen CA10195781
- ClinVar RCV000043579
- ClinVar RCV001034641
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.843
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum. (PMID 22780917)
- Cited in: Mutations in DEPDC5 cause familial focal epilepsy with variable foci. (PMID 23542697)