F56C (p.Phe56Cys) variant of ITGA2B (Integrin alpha-IIb)
F56C (p.Phe56Cys) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
F56C (p.Phe56Cys) variant details
- p.Phe56Cys
- TOPMed rs901643372
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.85
- MetaLR 0.86
- MetaSVM 0.91
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.5e-05)
- Structural context available