L822S (p.Leu822Ser) variant of ITGB4 (Integrin beta-4)
L822S (p.Leu822Ser) 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 0.61 / 1. The record also includes published literature and structural context.
L822S (p.Leu822Ser) variant details
- p.Leu822Ser
- rs902551587
- ClinGen CA294070084
- ClinVar RCV001352878
- Ensembl rs902551587
- Pathogenic
- Junctional epidermolysis bullosa with pyloric atresia
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- AlphaMissense 0.99
- MetaLR 0.55
- MetaSVM 0.18
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic (Junctional epidermolysis bullosa with pyloric atresia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Junctional Epidermolysis Bullosa. (PMID 20301304)
- Cited in: Epidermolysis Bullosa with Pyloric Atresia. (PMID 20301336)