C38R (p.Cys38Arg) variant of ITGB4 (Integrin beta-4)
C38R (p.Cys38Arg) in ITGB4 (Integrin beta-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Junctional epidermolysis bullosa with pyloric atresia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
C38R (p.Cys38Arg) variant details
- p.Cys38Arg
- rs121912465
- ClinGen CA257307
- ClinVar RCV000015859
- UniProt VAR 010652
- Pathogenic
- Junctional epidermolysis bullosa with pyloric atresia
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.98
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Junctional epidermolysis bullosa with pyloric atresia)
- EBI: Pathogenic (in JEB5B)
- UniProt: Pathogenic (in JEB5B)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two… (PMID 9892956)
- Cited in: Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa. (PMID 10873890)