R393W (p.Arg393Trp) variant of ABCC2 (Q92887)
R393W (p.Arg393Trp) 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 0.61 / 1. The record also includes population frequency data.
R393W (p.Arg393Trp) variant details
- p.Arg393Trp
- rs777902199
- ClinGen CA5643098
- NCI-TCGA Cosmic COSV6497
- ClinVar RCV000595125
- Pathogenic/Likely pathogenic
- not provided; Dubin-Johnson syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Dubin-Johnson syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.0002)