R1014W (p.Arg1014Trp) variant of ITGB4 (Integrin beta-4)
R1014W (p.Arg1014Trp) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R1014W (p.Arg1014Trp) variant details
- p.Arg1014Trp
- rs1164329850
- ClinGen CA401071005
- cosmic curated COSV52327
- ClinVar RCV001352880
- Pathogenic
- Junctional epidermolysis bullosa with pyloric atresia
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.48
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Junctional epidermolysis bullosa with pyloric atresia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Junctional Epidermolysis Bullosa. (PMID 20301304)
- Cited in: Epidermolysis Bullosa with Pyloric Atresia. (PMID 20301336)