A96E (p.Ala96Glu) variant of MAGED2 (Melanoma-associated antigen D2)
A96E (p.Ala96Glu) 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.
A96E (p.Ala96Glu) variant details
- p.Ala96Glu
- gnomAD X-54809963-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.01
- CADD 18.90
- PolyPhen-2 0.20
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available