A60V (p.Ala60Val) variant of MAGED2 (Melanoma-associated antigen D2)
A60V (p.Ala60Val) in MAGED2 (Melanoma-associated antigen D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A60V (p.Ala60Val) variant details
- p.Ala60Val
- gnomAD X-54809855-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.06
- CADD 20.30
- PolyPhen-2 0.96
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available