S70L (p.Ser70Leu) variant of MAGED2 (Melanoma-associated antigen D2)
S70L (p.Ser70Leu) in MAGED2 (Melanoma-associated antigen D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S70L (p.Ser70Leu) variant details
- p.Ser70Leu
- gnomAD X-54809885-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.17
- CADD 25.20
- PolyPhen-2 0.92
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available