V55E (p.Val55Glu) variant of MAGED2 (Melanoma-associated antigen D2)
V55E (p.Val55Glu) in MAGED2 (Melanoma-associated antigen D2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
V55E (p.Val55Glu) variant details
- p.Val55Glu
- gnomAD X-54809837-ATG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.577
- CADD 19.00
- Population evidence available
- Structural context available
- Literature evidence available