A80D (p.Ala80Asp) variant of MAGED2 (Melanoma-associated antigen D2)
A80D (p.Ala80Asp) in MAGED2 (Melanoma-associated antigen D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A80D (p.Ala80Asp) variant details
- p.Ala80Asp
- gnomAD X-54809915-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.03
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available