E50G (p.Glu50Gly) variant of MAGED2 (Melanoma-associated antigen D2)
E50G (p.Glu50Gly) in MAGED2 (Melanoma-associated antigen D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
E50G (p.Glu50Gly) variant details
- p.Glu50Gly
- gnomAD X-54809825-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.04
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available