K47E (p.Lys47Glu) variant of MAGED2 (Melanoma-associated antigen D2)
K47E (p.Lys47Glu) in MAGED2 (Melanoma-associated antigen D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
K47E (p.Lys47Glu) variant details
- p.Lys47Glu
- gnomAD X-54809815-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.09
- CADD 21.30
- PolyPhen-2 0.93
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available