E3E (p.Glu3Glu) variant of ABL1 (Tyrosine-protein kinase ABL1)
E3E (p.Glu3Glu) in ABL1 (Tyrosine-protein kinase ABL1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E3E (p.Glu3Glu) variant details
- p.Glu3Glu
- rs750562445
- gnomAD 9-130835455-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.301
- CADD 18.00
- Most common in the REMAINING population (allele frequency 0.00012)
- Structural context available
- Literature evidence available