L52H (p.Leu52His) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
L52H (p.Leu52His) 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 0.43 / 1. The record also includes structural context.
L52H (p.Leu52His) variant details
- p.Leu52His
- rs2148027396
- ClinGen CA411279577
- ClinVar RCV001360758
- Ensembl rs2148027396
- Uncertain significance
- Familial focal epilepsy with variable foci
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- AlphaMissense 0.98
- MetaLR 0.27
- MetaSVM -0.52
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.47
- ClinVar: Uncertain significance (Familial focal epilepsy with variable foci)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available