G8V (p.Gly8Val) variant of MAGED2 (Melanoma-associated antigen D2)
G8V (p.Gly8Val) in MAGED2 (Melanoma-associated antigen D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G8V (p.Gly8Val) variant details
- p.Gly8Val
- gnomAD X-54809354-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.14
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available