R78Q (p.Arg78Gln) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
R78Q (p.Arg78Gln) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial focal epilepsy with variable foci. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
R78Q (p.Arg78Gln) variant details
- p.Arg78Gln
- rs373578854
- ClinGen CA10195879
- ClinVar RCV002231814
- ESP rs373578854
- Uncertain significance
- Familial focal epilepsy with variable foci
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.88
- ClinVar: Uncertain significance (Familial focal epilepsy with variable foci)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available