Q9* (p.Gln9Ter) variant of ITGA2B (Integrin alpha-IIb)
Q9* (p.Gln9Ter) in ITGA2B (Integrin alpha-IIb) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
Q9* (p.Gln9Ter) variant details
- p.Gln9Ter
- TOPMed rs936234094
- gnomAD rs936234094
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.446
- CADD 32.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available