Q49* (p.Gln49Ter) variant of ITGA2B (Integrin alpha-IIb)
Q49* (p.Gln49Ter) in ITGA2B (Integrin alpha-IIb) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
Q49* (p.Gln49Ter) variant details
- p.Gln49Ter
- ExAC rs755904345
- gnomAD rs755904345
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.463
- CADD 34.00
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available