S34G (p.Ser34Gly) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
S34G (p.Ser34Gly) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S34G (p.Ser34Gly) variant details
- p.Ser34Gly
- gnomAD 4-69096620-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.33
- MetaLR 0.37
- MetaSVM -0.23
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available