R252C (p.Arg252Cys) variant of ITGB4 (Integrin beta-4)
R252C (p.Arg252Cys) 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 not provided; Epidermolysis bullosa, junctional 5A, intermediate; Junctional epi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R252C (p.Arg252Cys) variant details
- p.Arg252Cys
- rs201494421
- cosmic curated COSV10456
- UniProt VAR 004009
- 1000Genomes rs201494421
- Pathogenic/Likely pathogenic
- not provided; Epidermolysis bullosa, junctional 5A, intermediate; Junctional epi
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.96
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Epidermolysis bullosa, junctional 5A, intermediate)
- EBI: Pathogenic (in JEB5B)
- UniProt: Pathogenic (in JEB5B)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and… (PMID 11328943)
- Cited in: Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus… (PMID 9792864)