S43* (p.Ser43Ter) variant of CD19 (B-lymphocyte antigen CD19)
S43* (p.Ser43Ter) in CD19 (B-lymphocyte antigen CD19) 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 0.43 / 1. The record also includes population frequency data and structural context.
S43* (p.Ser43Ter) variant details
- p.Ser43Ter
- rs2152228184
- ClinGen CA395429742
- ClinVar RCV001896860
- Ensembl rs2152228184
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.43
- CADD 28.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available