V85I (p.Val85Ile) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
V85I (p.Val85Ile) 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 DEPDC5-related disorder. The record also includes structural context.
V85I (p.Val85Ile) variant details
- p.Val85Ile
- gnomAD rs1359960069
- Uncertain significance
- DEPDC5-related disorder
- Missense
- ClinVar: Uncertain significance (DEPDC5-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available