C48R (p.Cys48Arg) variant of ITGB4 (Integrin beta-4)
C48R (p.Cys48Arg) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
C48R (p.Cys48Arg) variant details
- p.Cys48Arg
- TOPMed rs1487542096
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.98
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available