E44* (p.Glu44Ter) variant of RRAD (GTP-binding protein RAD)
E44* (p.Glu44Ter) in RRAD (GTP-binding protein RAD) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
E44* (p.Glu44Ter) variant details
- p.Glu44Ter
- TOPMed rs927491505
- gnomAD rs927491505
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.842
- CADD 38.00
- Most common in the REMAINING population (allele frequency 8.4e-05)
- Structural context available