Q88E (p.Gln88Glu) variant of MAGED2 (Melanoma-associated antigen D2)
Q88E (p.Gln88Glu) in MAGED2 (Melanoma-associated antigen D2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
Q88E (p.Gln88Glu) variant details
- p.Gln88Glu
- TOPMed rs1432384861
- gnomAD rs1432384861
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.01
- AlphaMissense 0.07
- MetaLR 0.05
- MetaSVM -1.00
- CADD 15.50
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 9.5e-05)
- Structural context available