S57Y (p.Ser57Tyr) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
S57Y (p.Ser57Tyr) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes structural context.
S57Y (p.Ser57Tyr) variant details
- p.Ser57Tyr
- rs2148027642
- ClinGen CA411279628
- ClinVar RCV001975722
- ClinVar RCV004774574
- Uncertain significance
- Familial focal epilepsy with variable foci; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- AlphaMissense 0.36
- MetaLR 0.20
- MetaSVM -0.75
- PolyPhen-2 0.08
- SIFT 0.09
- EVE 0.58
- ClinVar: Uncertain significance (Familial focal epilepsy with variable foci; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available