G22* (p.Gly22Ter) variant of ITGB3 (Integrin beta-3)
G22* (p.Gly22Ter) in ITGB3 (Integrin beta-3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
G22* (p.Gly22Ter) variant details
- p.Gly22Ter
- gnomAD 17-47253919-CTGGC
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.629
- CADD 32.00
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available