R1150H (p.Arg1150His) variant of ABCC2 (Q92887)
R1150H (p.Arg1150His) in ABCC2 (Q92887) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of ABCC2-related disorder; not provided; Dubin-Johnson syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and published literature.
R1150H (p.Arg1150His) variant details
- p.Arg1150His
- rs72558200
- ClinGen CA119604
- ClinVar RCV000008930
- ClinVar RCV003421913
- Pathogenic/Likely pathogenic
- ABCC2-related disorder; not provided; Dubin-Johnson syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (ABCC2-related disorder; not provided; Dubin-Johnson syndrome)
- EBI: Pathogenic (in DJS)
- UniProt: Pathogenic (in DJS)
- Most common in the REMAINING population (allele frequency 0.00048)
- Cited in: Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli… (PMID 11477083)
- Cited in: Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the… (PMID 10053008)