R29C (p.Arg29Cys) variant of ITGB4 (Integrin beta-4)
R29C (p.Arg29Cys) in ITGB4 (Integrin beta-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Epidermolysis bullosa, junctional 5A, intermediate; Junctional epidermolysis bul. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R29C (p.Arg29Cys) variant details
- p.Arg29Cys
- rs138695324
- ClinGen CA8768538
- ClinVar RCV002747332
- ClinVar RCV005021683
- Uncertain significance
- Epidermolysis bullosa, junctional 5A, intermediate; Junctional epidermolysis bul
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.54
- CADD 26.70
- PolyPhen-2 0.87
- SIFT 0.02
- ClinVar: Uncertain significance (Epidermolysis bullosa, junctional 5A, intermediate; Junctional e)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)