R78W (p.Arg78Trp) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
R78W (p.Arg78Trp) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
R78W (p.Arg78Trp) variant details
- p.Arg78Trp
- rs202233627
- ClinVar RCV004573019
- TOPMed rs202233627
- gnomAD rs202233627
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- CADD 24.50
- PolyPhen-2 0.78
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available