L31* (p.Leu31Ter) variant of MAGED2 (Melanoma-associated antigen D2)
L31* (p.Leu31Ter) in MAGED2 (Melanoma-associated antigen D2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L31* (p.Leu31Ter) variant details
- p.Leu31Ter
- gnomAD X-54809768-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.538
- CADD 34.00
- Population evidence available
- Structural context available
- Literature evidence available