F30L (p.Phe30Leu) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
F30L (p.Phe30Leu) 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 0.83 / 1. The record also includes population frequency data and structural context.
F30L (p.Phe30Leu) variant details
- p.Phe30Leu
- rs374794334
- ClinGen CA10195813
- ClinVar RCV000797983
- ClinVar RCV004997334
- Uncertain significance
- Familial focal epilepsy with variable foci; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- CADD 24.00
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (Familial focal epilepsy with variable foci; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00047)
- Structural context available