F56C (p.Phe56Cys) variant of ITGB4 (Integrin beta-4)
F56C (p.Phe56Cys) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
F56C (p.Phe56Cys) variant details
- p.Phe56Cys
- TOPMed rs1414942059
- gnomAD rs1414942059
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.93
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available