H39L (p.His39Leu) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
H39L (p.His39Leu) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
H39L (p.His39Leu) variant details
- p.His39Leu
- Ensembl rs2125983562
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.72
- CADD 24.60
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available