E21* (p.Glu21Ter) variant of ICOS (Inducible T-cell costimulator)
E21* (p.Glu21Ter) in ICOS (Inducible T-cell costimulator) 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 0.46 / 1. The record also includes population frequency data and structural context.
E21* (p.Glu21Ter) variant details
- p.Glu21Ter
- rs1015881666
- ClinGen CA63850985
- cosmic curated COSV10966
- ClinVar RCV001872150
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.464
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available