P40A (p.Pro40Ala) variant of MAGED2 (Melanoma-associated antigen D2)
P40A (p.Pro40Ala) 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.
P40A (p.Pro40Ala) variant details
- p.Pro40Ala
- gnomAD X-54809794-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.02
- CADD 9.95
- PolyPhen-2 0.01
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available