A60D (p.Ala60Asp) variant of MAGED2 (Melanoma-associated antigen D2)
A60D (p.Ala60Asp) in MAGED2 (Melanoma-associated antigen D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A60D (p.Ala60Asp) variant details
- p.Ala60Asp
- gnomAD X-54809855-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.07
- CADD 21.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available