I1173F (p.Ile1173Phe) variant of ABCC2 (Q92887)
I1173F (p.Ile1173Phe) in ABCC2 (Q92887) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Dubin-Johnson syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and published literature.
I1173F (p.Ile1173Phe) variant details
- p.Ile1173Phe
- rs72558201
- ClinGen CA119602
- ClinVar RCV000008929
- ClinVar RCV000727693
- Pathogenic
- Dubin-Johnson syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Dubin-Johnson syndrome; not provided)
- EBI: Pathogenic (in DJS)
- UniProt: Pathogenic (in DJS)
- Most common in the Middle Eastern population (allele frequency 0.0024)
- Cited in: Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli… (PMID 11477083)
- Cited in: Functional characterization of protein variants of the human multidrug transporter ABCC2 by a novel targeted expression… (PMID 22290738)