A96G (p.Ala96Gly) variant of MAGED2 (Melanoma-associated antigen D2)
A96G (p.Ala96Gly) 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.
A96G (p.Ala96Gly) variant details
- p.Ala96Gly
- gnomAD X-54809963-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.01
- CADD 18.90
- PolyPhen-2 0.11
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available