G693R (p.Gly693Arg) variant of ABCC2 (Q92887)
G693R (p.Gly693Arg) in ABCC2 (Q92887) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Dubin-Johnson syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data.
G693R (p.Gly693Arg) variant details
- p.Gly693Arg
- rs765570396
- ClinGen CA5643381
- ClinVar RCV000734633
- ClinVar RCV004720281
- Conflicting interpretations
- not provided; Dubin-Johnson syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Dubin-Johnson syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BURUSHO population (allele frequency 0.021)