L11H (p.Leu11His) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
L11H (p.Leu11His) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L11H (p.Leu11His) variant details
- p.Leu11His
- 1000Genomes rs201984525
- ExAC rs201984525
- gnomAD rs201984525
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.30
- CADD 21.80
- PolyPhen-2 0.54
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available