E74D (p.Glu74Asp) variant of MAGED2 (Melanoma-associated antigen D2)
E74D (p.Glu74Asp) in MAGED2 (Melanoma-associated antigen D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E74D (p.Glu74Asp) variant details
- p.Glu74Asp
- gnomAD X-54809898-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.02
- CADD 19.90
- PolyPhen-2 0.10
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available