W43* (p.Trp43Ter) variant of CD3D (P04234)
W43* (p.Trp43Ter) 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 0.26 / 1. The record also includes population frequency data and structural context.
W43* (p.Trp43Ter) variant details
- p.Trp43Ter
- rs1591278347
- ClinGen CA382789484
- ClinVar RCV000796754
- Ensembl rs1591278347
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 24.70
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available