p.Val33dup variant of ABL1 (Tyrosine-protein kinase ABL1)
p.Val33dup in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
p.Val33dup variant details
- gnomAD 9-130854079-C-CAG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.725
- CADD 21.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available