C177Y (p.Cys177Tyr) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
C177Y (p.Cys177Tyr) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Gilbert syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
C177Y (p.Cys177Tyr) variant details
- p.Cys177Tyr
- rs1373930486
- ClinGen CA351066981
- ClinVar RCV001817838
- ClinVar RCV004720320
- Pathogenic/Likely pathogenic
- Gilbert syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.51
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Gilbert syndrome; not provided)
- EBI: Pathogenic (in CN1)
- UniProt: Pathogenic (in CN1)
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available