L49P (p.Leu49Pro) variant of MAGED2 (Melanoma-associated antigen D2)
L49P (p.Leu49Pro) in MAGED2 (Melanoma-associated antigen D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L49P (p.Leu49Pro) variant details
- p.Leu49Pro
- gnomAD X-54809822-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.06
- CADD 6.48
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available