Q41* (p.Gln41Ter) variant of ITGB3 (Integrin beta-3)
Q41* (p.Gln41Ter) in ITGB3 (Integrin beta-3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
Q41* (p.Gln41Ter) variant details
- p.Gln41Ter
- rs2547613560
- ClinGen CA400031690
- ClinVar RCV002511528
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.626
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available