R5H (p.Arg5His) variant of ITGB4 (Integrin beta-4)
R5H (p.Arg5His) in ITGB4 (Integrin beta-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
R5H (p.Arg5His) variant details
- p.Arg5His
- rs374855840
- ClinGen CA8768513
- cosmic curated COSV52325
- ClinVar RCV002999248
- Conflicting interpretations
- not provided; Epidermolysis bullosa, junctional 5A, intermediate; Junctional epi
- Missense
- Variant Prioritization Score for Impact Estimate 0.0786
- REVEL 0.08
- CADD 0.72
- PolyPhen-2 0.00
- SIFT 0.77
- ClinVar: Conflicting classifications of pathogenicity (not provided; Epidermolysis bullosa, junctional 5A, intermediate)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)