L89M (p.Leu89Met) variant of MAGED2 (Melanoma-associated antigen D2)
L89M (p.Leu89Met) in MAGED2 (Melanoma-associated antigen D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L89M (p.Leu89Met) variant details
- p.Leu89Met
- gnomAD X-54809941-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.07
- CADD 22.20
- PolyPhen-2 0.64
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available