S5R (p.Ser5Arg) variant of MAGED2 (Melanoma-associated antigen D2)
S5R (p.Ser5Arg) in MAGED2 (Melanoma-associated antigen D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S5R (p.Ser5Arg) variant details
- p.Ser5Arg
- gnomAD X-54809346-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.14
- CADD 11.80
- PolyPhen-2 0.92
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Literature evidence available