A78V (p.Ala78Val) variant of MAGED2 (Melanoma-associated antigen D2)
A78V (p.Ala78Val) in MAGED2 (Melanoma-associated antigen D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A78V (p.Ala78Val) variant details
- p.Ala78Val
- gnomAD X-54809909-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.04
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available