A71S (p.Ala71Ser) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
A71S (p.Ala71Ser) 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 0.10 / 1. The record also includes population frequency data and structural context.
A71S (p.Ala71Ser) variant details
- p.Ala71Ser
- rs12233719
- ClinGen CA2944536
- cosmic curated COSV59441
- ClinVar RCV001028970
- drug response
- Tramadol response
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.04
- MetaLR 0.00
- MetaSVM -1.01
- CADD 0.00
- PolyPhen-2 0.03
- SIFT 0.28
- ClinVar: drug response (Tramadol response)
- EBI: Drug response (in dbSNP:rs12233719)
- UniProt: Drug response (in dbSNP:rs12233719)
- Most common in the HGDP:MIAO population (allele frequency 0.25)
- Structural context available