A71G (p.Ala71Gly) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
A71G (p.Ala71Gly) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A71G (p.Ala71Gly) variant details
- p.Ala71Gly
- gnomAD 4-69096732-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.01
- MetaLR 0.13
- MetaSVM -1.02
- CADD 2.65
- PolyPhen-2 0.27
- SIFT 0.48
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available