A80S (p.Ala80Ser) variant of MAGED2 (Melanoma-associated antigen D2)
A80S (p.Ala80Ser) in MAGED2 (Melanoma-associated antigen D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A80S (p.Ala80Ser) variant details
- p.Ala80Ser
- gnomAD X-54809914-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.02
- CADD 11.80
- PolyPhen-2 0.03
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available