Q49* (p.Gln49Ter) variant of CD2 (T-cell surface antigen CD2)
Q49* (p.Gln49Ter) in CD2 (T-cell surface antigen CD2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
Q49* (p.Gln49Ter) variant details
- p.Gln49Ter
- cosmic curated COSV10606
- TOPMed rs1287434511
- gnomAD rs1287434511
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.293
- CADD 30.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available