Y333D (p.Tyr333Asp) variant of ITGB4 (Integrin beta-4)
Y333D (p.Tyr333Asp) 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 with pyloric atresia; Epidermolysis bullosa, ju. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
Y333D (p.Tyr333Asp) variant details
- p.Tyr333Asp
- rs761952496
- ClinGen CA8768824
- ClinVar RCV001352875
- ClinVar RCV005014474
- Pathogenic/Likely pathogenic
- Junctional epidermolysis bullosa with pyloric atresia; Epidermolysis bullosa, ju
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.97
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Junctional epidermolysis bullosa with pyloric atresia; Epidermol)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Junctional Epidermolysis Bullosa. (PMID 20301304)
- Cited in: Epidermolysis Bullosa with Pyloric Atresia. (PMID 20301336)