S7R (p.Ser7Arg) variant of MAGED2 (Melanoma-associated antigen D2)
S7R (p.Ser7Arg) 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.
S7R (p.Ser7Arg) variant details
- p.Ser7Arg
- gnomAD X-54809352-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.02
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available