Q15* (p.Gln15Ter) variant of ABL2 (Tyrosine-protein kinase ABL2)
Q15* (p.Gln15Ter) in ABL2 (Tyrosine-protein kinase ABL2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and published literature.
Q15* (p.Gln15Ter) variant details
- p.Gln15Ter
- rs1553236156
- ClinGen CA343842778
- ClinVar RCV000623707
- Ensembl rs1553236156
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.821
- CADD 36.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence 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)