Q80* (p.Gln80Ter) variant of BCL11B (B-cell lymphoma/leukemia 11B)
Q80* (p.Gln80Ter) in BCL11B (B-cell lymphoma/leukemia 11B) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Q80* (p.Gln80Ter) variant details
- p.Gln80Ter
- rs1555384301
- ClinGen CA390939282
- ClinVar RCV000623070
- Ensembl rs1555384301
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.85
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)