G8S (p.Gly8Ser) variant of MAGED2 (Melanoma-associated antigen D2)
G8S (p.Gly8Ser) in MAGED2 (Melanoma-associated antigen D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G8S (p.Gly8Ser) variant details
- p.Gly8Ser
- gnomAD X-54809353-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.09
- CADD 26.70
- PolyPhen-2 0.97
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available