V90L (p.Val90Leu) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
V90L (p.Val90Leu) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in FFEVF1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
V90L (p.Val90Leu) variant details
- p.Val90Leu
- ExAC rs768456731
- TOPMed rs768456731
- gnomAD rs768456731
- Pathogenic
- in FFEVF1
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- CADD 25.70
- PolyPhen-2 0.37
- SIFT 0.00
- EBI: Pathogenic (in FFEVF1)
- UniProt: Pathogenic (in FFEVF1)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available