S25W (p.Ser25Trp) variant of MAGED2 (Melanoma-associated antigen D2)
S25W (p.Ser25Trp) in MAGED2 (Melanoma-associated antigen D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
S25W (p.Ser25Trp) variant details
- p.Ser25Trp
- gnomAD X-54809750-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.09
- CADD 20.50
- PolyPhen-2 0.68
- SIFT 0.01
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available