G50A (p.Gly50Ala) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
G50A (p.Gly50Ala) 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.
G50A (p.Gly50Ala) variant details
- p.Gly50Ala
- ExAC rs771477682
- gnomAD rs771477682
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.55
- MetaLR 0.72
- MetaSVM 0.76
- CADD 23.60
- PolyPhen-2 0.93
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available