A16S (p.Ala16Ser) variant of MAGED2 (Melanoma-associated antigen D2)
A16S (p.Ala16Ser) 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.
A16S (p.Ala16Ser) variant details
- p.Ala16Ser
- gnomAD X-54809722-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.01
- CADD 21.90
- PolyPhen-2 0.08
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available