E53* (p.Glu53Ter) variant of CD40 (P25942)
E53* (p.Glu53Ter) in CD40 (P25942) 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 0.38 / 1. The record also includes population frequency data and structural context.
E53* (p.Glu53Ter) variant details
- p.Glu53Ter
- rs2515708304
- ClinGen CA409203443
- ClinVar RCV002848000
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.38
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available