A83P (p.Ala83Pro) variant of MAGED2 (Melanoma-associated antigen D2)
A83P (p.Ala83Pro) 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.
A83P (p.Ala83Pro) variant details
- p.Ala83Pro
- gnomAD X-54809923-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.02
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available