R43G (p.Arg43Gly) variant of ITGB4 (Integrin beta-4)
R43G (p.Arg43Gly) in ITGB4 (Integrin beta-4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
R43G (p.Arg43Gly) variant details
- p.Arg43Gly
- ExAC rs757276151
- TOPMed rs757276151
- gnomAD rs757276151
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.80
- CADD 28.20
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available