R68* (p.Arg68Ter) variant of CD3D (P04234)
R68* (p.Arg68Ter) in CD3D (P04234) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R68* (p.Arg68Ter) variant details
- p.Arg68Ter
- rs111033580
- ClinGen CA149740
- ClinVar RCV000083294
- ClinVar RCV002508775
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.556
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: CD3delta couples T-cell receptor signalling to ERK activation and thymocyte positive selection. (PMID 10935641)
- Cited in: Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined… (PMID 14602880)