K46E (p.Lys46Glu) variant of ITGB4 (Integrin beta-4)
K46E (p.Lys46Glu) in ITGB4 (Integrin beta-4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
K46E (p.Lys46Glu) variant details
- p.Lys46Glu
- ExAC rs755212864
- TOPMed rs755212864
- gnomAD rs755212864
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.41
- CADD 23.30
- PolyPhen-2 0.68
- SIFT 0.10
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available