I33N (p.Ile33Asn) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
I33N (p.Ile33Asn) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. 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.
I33N (p.Ile33Asn) variant details
- p.Ile33Asn
- ESP rs368348566
- ExAC rs368348566
- TOPMed rs368348566
- gnomAD rs368348566
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.49
- CADD 25.70
- PolyPhen-2 0.78
- SIFT 0.00
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available