R283C (p.Arg283Cys) variant of ITGB4 (Integrin beta-4)
R283C (p.Arg283Cys) 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 Fetal anomalies with a likely genetic cause; Junctional epidermolysis bullosa wi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R283C (p.Arg283Cys) variant details
- p.Arg283Cys
- rs1422797135
- ClinGen CA401042469
- ClinVar RCV001352874
- UniProt VAR 011295
- Pathogenic/Likely pathogenic
- Fetal anomalies with a likely genetic cause; Junctional epidermolysis bullosa wi
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.80
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Fetal anomalies with a likely genetic cause; Junctional epidermo)
- 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: Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa. (PMID 10873890)