I47I (p.Ile47Ile) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
I47I (p.Ile47Ile) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
I47I (p.Ile47Ile) variant details
- p.Ile47Ile
- rs34526305
- gnomAD 2-233760428-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.227
- CADD 7.94
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Cited in: ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. (PMID 18414213)