Q29* (p.Gln29Ter) variant of ABCC2 (Q92887)
Q29* (p.Gln29Ter) in ABCC2 (Q92887) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
Q29* (p.Gln29Ter) variant details
- p.Gln29Ter
- gnomAD 10-99784659-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.859
- CADD 37.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available