A71P (p.Ala71Pro) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
A71P (p.Ala71Pro) 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 0.12 / 1. The record also includes population frequency data and structural context.
A71P (p.Ala71Pro) variant details
- p.Ala71Pro
- 1000Genomes rs12233719
- ESP rs12233719
- ExAC rs12233719
- TOPMed rs12233719
- Drug response
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.07
- MetaLR 0.09
- MetaSVM -0.98
- CADD 0.00
- PolyPhen-2 0.05
- SIFT 0.13
- EBI: Drug response (in dbSNP:rs12233719)
- UniProt: Drug response (in dbSNP:rs12233719)
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available