H51D (p.His51Asp) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
H51D (p.His51Asp) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. Clinical records from EBI and UniProt describe it as drug 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.
H51D (p.His51Asp) variant details
- p.His51Asp
- ExAC rs777092380
- gnomAD rs777092380
- Drug response
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.38
- MetaLR 0.61
- MetaSVM 0.13
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Drug response
- UniProt: Drug response
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available