R1281W (p.Arg1281Trp) variant of ITGB4 (Integrin beta-4)
R1281W (p.Arg1281Trp) 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 Epidermolysis bullosa, junctional 5A, intermediate; Junctional epidermolysis bul. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R1281W (p.Arg1281Trp) variant details
- p.Arg1281Trp
- rs121912467
- ClinGen CA257309
- ClinVar RCV000015863
- ClinVar RCV000359496
- Pathogenic/Likely pathogenic
- Epidermolysis bullosa, junctional 5A, intermediate; Junctional epidermolysis bul
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.53
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Epidermolysis bullosa, junctional 5A, intermediate; Junctional e)
- EBI: Pathogenic (in JEB5B)
- UniProt: Pathogenic (in JEB5B)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa. (PMID 10873890)
- Cited in: Two different mutations in the cytoplasmic domain of the integrin beta 4 subunit in nonlethal forms of epidermolysis… (PMID 11886501)