S34A (p.Ser34Ala) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
S34A (p.Ser34Ala) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S34A (p.Ser34Ala) variant details
- p.Ser34Ala
- gnomAD 4-69096619-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.241
- CADD 22.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available