E40G (p.Glu40Gly) variant of ITGB4 (Integrin beta-4)
E40G (p.Glu40Gly) in ITGB4 (Integrin beta-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Epidermolysis bullosa, junctional 5A, intermediate; Junctional epidermolysis bul. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
E40G (p.Glu40Gly) variant details
- p.Glu40Gly
- ExAC rs763732398
- TOPMed rs763732398
- gnomAD rs763732398
- Uncertain significance
- Epidermolysis bullosa, junctional 5A, intermediate; Junctional epidermolysis bul
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.76
- CADD 32.00
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Epidermolysis bullosa, junctional 5A, intermediate; Junctional e)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available