Q126* (p.Gln126Ter) variant of ABCG2 (Q9UNQ0)
Q126* (p.Gln126Ter) in ABCG2 (Q9UNQ0) is a protein-truncating change. Clinical records from EBI and UniProt describe it as association. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
Q126* (p.Gln126Ter) variant details
- p.Gln126Ter
- rs72552713
- ClinGen CA129172
- ClinVar RCV000023335
- ClinVar RCV000023336
- association
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.871
- CADD 41.00
- EBI: association
- UniProt: Association
- Most common in the HGDP:MONGOLIAN population (allele frequency 0.05)
- Structural context available
- Cited in: Genetic variation and haplotype structure of the ABC transporter gene ABCG2 in a Japanese population. (PMID 16702730)
- Cited in: Common defects of ABCG2, a high-capacity urate exporter, cause gout: a function-based genetic analysis in a Japanese… (PMID 20368174)