D44N (p.Asp44Asn) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
D44N (p.Asp44Asn) 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 0.21 / 1. The record also includes population frequency data and structural context.
D44N (p.Asp44Asn) variant details
- p.Asp44Asn
- rs1577920819
- ClinGen CA357095316
- ClinVar RCV001028157
- Ensembl rs1577920819
- drug response
- Tramadol response
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.12
- MetaLR 0.24
- MetaSVM -0.77
- CADD 13.30
- PolyPhen-2 0.03
- SIFT 0.19
- ClinVar: drug response (Tramadol response)
- EBI: Drug response
- UniProt: Drug response
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available