I30L (p.Ile30Leu) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
I30L (p.Ile30Leu) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
I30L (p.Ile30Leu) variant details
- p.Ile30Leu
- TOPMed rs1032753915
- gnomAD rs1032753915
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.16
- CADD 1.45
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available