A80T (p.Ala80Thr) variant of MAGED2 (Melanoma-associated antigen D2)
A80T (p.Ala80Thr) 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.
A80T (p.Ala80Thr) variant details
- p.Ala80Thr
- gnomAD X-54809914-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.03
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 0.61
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Literature evidence available