G50S (p.Gly50Ser) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
G50S (p.Gly50Ser) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
G50S (p.Gly50Ser) variant details
- p.Gly50Ser
- Ensembl rs1577920855
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.55
- MetaLR 0.72
- MetaSVM 0.77
- CADD 23.60
- PolyPhen-2 0.95
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available