I30T (p.Ile30Thr) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
I30T (p.Ile30Thr) 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 0.51 / 1. The record also includes population frequency data and structural context.
I30T (p.Ile30Thr) variant details
- p.Ile30Thr
- rs375204962
- ClinGen CA2179772
- cosmic curated COSV10053
- NCI-TCGA Cosmic COSV5938
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.46
- CADD 22.80
- PolyPhen-2 0.16
- SIFT 0.00
- 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