S20F (p.Ser20Phe) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
S20F (p.Ser20Phe) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as drug response in the context of Tramadol response. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
S20F (p.Ser20Phe) variant details
- p.Ser20Phe
- rs1403703291
- ClinGen CA357095160
- ClinVar RCV001028161
- TOPMed rs1403703291
- drug response
- Tramadol response
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.10
- MetaLR 0.14
- MetaSVM -0.97
- CADD 7.98
- PolyPhen-2 0.16
- SIFT 0.36
- ClinVar: drug response (Tramadol response)
- EBI: Drug response
- UniProt: Drug response
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available