F56L (p.Phe56Leu) variant of ITGB4 (Integrin beta-4)
F56L (p.Phe56Leu) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
F56L (p.Phe56Leu) variant details
- p.Phe56Leu
- ExAC rs764349772
- gnomAD rs764349772
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.77
- CADD 23.70
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available