D54Y (p.Asp54Tyr) variant of MAGED2 (Melanoma-associated antigen D2)
D54Y (p.Asp54Tyr) 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.
D54Y (p.Asp54Tyr) variant details
- p.Asp54Tyr
- gnomAD X-54809836-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.06
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available