L17M (p.Leu17Met) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
L17M (p.Leu17Met) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L17M (p.Leu17Met) variant details
- p.Leu17Met
- gnomAD rs1472715638
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.29
- CADD 21.30
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available