G50V (p.Gly50Val) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
G50V (p.Gly50Val) 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, published literature, and structural context.
G50V (p.Gly50Val) variant details
- p.Gly50Val
- gnomAD 4-69096669-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.60
- MetaLR 0.72
- MetaSVM 0.61
- CADD 23.80
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available