R768W (p.Arg768Trp) variant of ABCC2 (Q92887)
R768W (p.Arg768Trp) in ABCC2 (Q92887) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Dubin-Johnson syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and published literature.
R768W (p.Arg768Trp) variant details
- p.Arg768Trp
- rs56199535
- ClinGen CA119596
- ClinVar RCV000008923
- ClinVar RCV000726727
- Pathogenic/Likely pathogenic
- not provided; Dubin-Johnson syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- MetaLR 0.94
- MetaSVM 1.06
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Dubin-Johnson syndrome)
- EBI: Pathogenic (in DJS)
- UniProt: Pathogenic (in DJS)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Cited in: Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the… (PMID 10053008)
- Cited in: Polymorphism of the ABC transporter genes, MDR1, MRP1 and MRP2/cMOAT, in healthy Japanese subjects. (PMID 11266082)