Q30* (p.Gln30Ter) variant of ABL1 (Tyrosine-protein kinase ABL1)
Q30* (p.Gln30Ter) in ABL1 (Tyrosine-protein kinase ABL1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
Q30* (p.Gln30Ter) variant details
- p.Gln30Ter
- gnomAD rs1166841293
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.87
- CADD 39.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available