L44H (p.Leu44His) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
L44H (p.Leu44His) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
L44H (p.Leu44His) variant details
- p.Leu44His
- rs1178608845
- ClinGen CA351065795
- ClinVar RCV001811920
- TOPMed rs1178608845
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.10
- CADD 7.22
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available