H51Y (p.His51Tyr) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
H51Y (p.His51Tyr) 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 0.51 / 1. The record also includes population frequency data and structural context.
H51Y (p.His51Tyr) variant details
- p.His51Tyr
- rs777092380
- ClinGen CA357095363
- ClinVar RCV001028972
- ExAC rs777092380
- drug response
- Tramadol response
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.39
- MetaLR 0.61
- MetaSVM -0.06
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: drug response (Tramadol response)
- EBI: Drug response
- UniProt: Drug response
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available