R76L (p.Arg76Leu) variant of MAGED2 (Melanoma-associated antigen D2)
R76L (p.Arg76Leu) 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.
R76L (p.Arg76Leu) variant details
- p.Arg76Leu
- gnomAD X-54809903-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.04
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available