E54E (p.Glu54Glu) variant of ITGB4 (Integrin beta-4)
E54E (p.Glu54Glu) in ITGB4 (Integrin beta-4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
E54E (p.Glu54Glu) variant details
- p.Glu54Glu
- rs2060739187
- gnomAD 17-75727277-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.605
- CADD 24.10
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available