D54V (p.Asp54Val) variant of MAGED2 (Melanoma-associated antigen D2)
D54V (p.Asp54Val) in MAGED2 (Melanoma-associated antigen D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
D54V (p.Asp54Val) variant details
- p.Asp54Val
- gnomAD X-54809837-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.04
- CADD 11.90
- PolyPhen-2 0.00
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available