C48W (p.Cys48Trp) variant of ITGB4 (Integrin beta-4)
C48W (p.Cys48Trp) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
C48W (p.Cys48Trp) variant details
- p.Cys48Trp
- gnomAD 17-75727259-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.83
- CADD 16.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available