Q88* (p.Gln88Ter) variant of MAGED2 (Melanoma-associated antigen D2)
Q88* (p.Gln88Ter) in MAGED2 (Melanoma-associated antigen D2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes structural context.
Q88* (p.Gln88Ter) variant details
- p.Gln88Ter
- rs1432384861
- ClinGen CA413265487
- ClinVar RCV003320417
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.305
- AlphaMissense 0.07
- MetaLR 0.05
- MetaSVM -1.00
- PolyPhen-2 0.00
- SIFT 0.11
- MutPred 0.12
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available