R13C (p.Arg13Cys) variant of MAGED2 (Melanoma-associated antigen D2)
R13C (p.Arg13Cys) in MAGED2 (Melanoma-associated antigen D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
R13C (p.Arg13Cys) variant details
- p.Arg13Cys
- gnomAD X-54809368-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0858
- REVEL 0.02
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available
- Literature evidence available