L100* (p.Leu100Ter) variant of ABCC4 (O15439)
L100* (p.Leu100Ter) in ABCC4 (O15439) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data.
L100* (p.Leu100Ter) variant details
- p.Leu100Ter
- gnomAD rs1217879718
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.71
- CADD 37.00
- Most common in the South Asian population (allele frequency 4.7e-05)