C61* (p.Cys61Ter) variant of ITGB4 (Integrin beta-4)
C61* (p.Cys61Ter) in ITGB4 (Integrin beta-4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
C61* (p.Cys61Ter) variant details
- p.Cys61Ter
- gnomAD 17-75727424-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.77
- CADD 34.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available