R1225H (p.Arg1225His) variant of ITGB4 (Integrin beta-4)
R1225H (p.Arg1225His) in ITGB4 (Integrin beta-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Junctional epidermolysis bullosa; Junctional epidermolysis bullosa with pyloric. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R1225H (p.Arg1225His) variant details
- p.Arg1225His
- rs121912468
- ClinGen CA257310
- ClinVar RCV000015864
- ClinVar RCV005406745
- Pathogenic/Likely pathogenic
- Junctional epidermolysis bullosa; Junctional epidermolysis bullosa with pyloric
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.44
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Junctional epidermolysis bullosa; Junctional epidermolysis bullo)
- EBI: Pathogenic (in JEB5B)
- UniProt: Pathogenic (in JEB5B)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and… (PMID 11328943)
- Cited in: Two different mutations in the cytoplasmic domain of the integrin beta 4 subunit in nonlethal forms of epidermolysis… (PMID 11886501)