Q6H (p.Gln6His) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
Q6H (p.Gln6His) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
Q6H (p.Gln6His) variant details
- p.Gln6His
- cosmic curated COSV10963
- ExAC rs745957787
- TOPMed rs745957787
- gnomAD rs745957787
- Missense
- Variant Prioritization Score for Impact Estimate 0.0725
- REVEL 0.06
- CADD 4.98
- PolyPhen-2 0.05
- SIFT 0.14
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available