G50D (p.Gly50Asp) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
G50D (p.Gly50Asp) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
G50D (p.Gly50Asp) variant details
- p.Gly50Asp
- ExAC rs771477682
- gnomAD rs771477682
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.58
- MetaLR 0.65
- MetaSVM 0.55
- CADD 23.50
- PolyPhen-2 0.52
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available