R43C (p.Arg43Cys) variant of ITGB4 (Integrin beta-4)
R43C (p.Arg43Cys) 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.
R43C (p.Arg43Cys) variant details
- p.Arg43Cys
- cosmic curated COSV10585
- ExAC rs757276151
- TOPMed rs757276151
- gnomAD rs757276151
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.79
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available