E68* (p.Glu68Ter) variant of MAGED2 (Melanoma-associated antigen D2)
E68* (p.Glu68Ter) in MAGED2 (Melanoma-associated antigen D2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E68* (p.Glu68Ter) variant details
- p.Glu68Ter
- gnomAD X-54809878-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.386
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available