Q73* (p.Gln73Ter) variant of ITGB4 (Integrin beta-4)
Q73* (p.Gln73Ter) in ITGB4 (Integrin beta-4) 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 0.38 / 1. The record also includes population frequency data and structural context.
Q73* (p.Gln73Ter) variant details
- p.Gln73Ter
- rs1392939514
- ClinGen CA401038444
- ClinVar RCV003560025
- ClinVar RCV004750389
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.384
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available