S306F (p.Ser306Phe) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
S306F (p.Ser306Phe) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Gilbert syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes structural context.
S306F (p.Ser306Phe) variant details
- p.Ser306Phe
- rs1169717734
- ClinGen CA351071889
- ClinVar RCV002221190
- gnomAD rs1169717734
- Likely pathogenic
- Gilbert syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- AlphaMissense 0.98
- MetaLR 0.75
- MetaSVM 0.76
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Likely pathogenic (Gilbert syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available