Y119* (p.Tyr119Ter) variant of ABCC4 (O15439)
Y119* (p.Tyr119Ter) in ABCC4 (O15439) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data.
Y119* (p.Tyr119Ter) variant details
- p.Tyr119Ter
- TOPMed rs1566553891
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.809
- CADD 29.20
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)