L32* (p.Leu32Ter) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
L32* (p.Leu32Ter) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
L32* (p.Leu32Ter) variant details
- p.Leu32Ter
- rs1308601724
- gnomAD 2-233760379-TG-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.611
- CADD 22.90
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Literature evidence available