A75V (p.Ala75Val) variant of MAGED2 (Melanoma-associated antigen D2)
A75V (p.Ala75Val) in MAGED2 (Melanoma-associated antigen D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A75V (p.Ala75Val) variant details
- p.Ala75Val
- gnomAD X-54809900-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.04
- CADD 19.60
- PolyPhen-2 0.15
- SIFT 0.04
- Most common in the East Asian population (allele frequency 3.4e-05)
- Structural context available
- Literature evidence available