I30M (p.Ile30Met) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
I30M (p.Ile30Met) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
I30M (p.Ile30Met) variant details
- p.Ile30Met
- TOPMed rs1697424081
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.17
- CADD 5.72
- PolyPhen-2 0.10
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available