Q160* (p.Gln160Ter) variant of ABCC4 (O15439)
Q160* (p.Gln160Ter) in ABCC4 (O15439) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
Q160* (p.Gln160Ter) variant details
- p.Gln160Ter
- gnomAD rs1261399221
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.744
- CADD 39.00
- Most common in the South Asian population (allele frequency 2.3e-05)