G764D (p.Gly764Asp) variant of ABCC2 (Q92887)
G764D (p.Gly764Asp) in ABCC2 (Q92887) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Dubin-Johnson syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data.
G764D (p.Gly764Asp) variant details
- p.Gly764Asp
- Ensembl rs2038470660
- Likely pathogenic
- Dubin-Johnson syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- MetaLR 0.99
- MetaSVM 0.98
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Dubin-Johnson syndrome)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)