C48C (p.Cys48Cys) variant of ITGB4 (Integrin beta-4)
C48C (p.Cys48Cys) in ITGB4 (Integrin beta-4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
C48C (p.Cys48Cys) variant details
- p.Cys48Cys
- rs150023264
- gnomAD 17-75727259-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.108
- CADD 3.89
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available