R252S (p.Arg252Ser) variant of ITGB4 (Integrin beta-4)
R252S (p.Arg252Ser) 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 Junctional epidermolysis bullosa with pyloric atresia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R252S (p.Arg252Ser) variant details
- p.Arg252Ser
- rs201494421
- ClinGen CA401041970
- cosmic curated COSV52321
- ClinVar RCV001125950
- Uncertain significance
- Junctional epidermolysis bullosa with pyloric atresia
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.95
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Junctional epidermolysis bullosa with pyloric atresia)
- EBI: Likely pathogenic (in JEB5B)
- UniProt: Likely pathogenic (in JEB5B)
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Cited in: Junctional Epidermolysis Bullosa. (PMID 20301304)
- Cited in: Epidermolysis Bullosa with Pyloric Atresia. (PMID 20301336)