L558P (p.Leu558Pro) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
L558P (p.Leu558Pro) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial focal epilepsy with variable foci. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data.
L558P (p.Leu558Pro) variant details
- p.Leu558Pro
- rs2089433234
- ClinGen CA411280203
- ClinVar RCV001203486
- ClinVar RCV004777995
- Likely pathogenic
- Familial focal epilepsy with variable foci
- Missense
- Variant Prioritization Score for Impact Estimate 0.0906
- CADD 1.41
- ClinVar: Likely pathogenic (Familial focal epilepsy with variable foci)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available