L156P (p.Leu156Pro) variant of ITGB4 (Integrin beta-4)
L156P (p.Leu156Pro) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
L156P (p.Leu156Pro) variant details
- p.Leu156Pro
- rs121912461
- ClinGen CA257298
- ClinVar RCV000015853
- UniProt VAR 004007
- Pathogenic
- Junctional epidermolysis bullosa with pyloric atresia
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.99
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Junctional epidermolysis bullosa with pyloric atresia)
- EBI: Pathogenic (in JEB5B)
- UniProt: Pathogenic (in JEB5B)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4)… (PMID 9546354)
- Cited in: Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa. (PMID 10873890)