E50G (p.Glu50Gly) variant of CD28 (P10747)
E50G (p.Glu50Gly) in CD28 (P10747) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
E50G (p.Glu50Gly) variant details
- p.Glu50Gly
- gnomAD 2-203726725-A-AG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.646
- CADD 27.50
- Population evidence available
- Structural context available
- Literature evidence available