C17G (p.Cys17Gly) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
C17G (p.Cys17Gly) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
C17G (p.Cys17Gly) variant details
- p.Cys17Gly
- gnomAD 4-69096569-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.06
- MetaLR 0.12
- MetaSVM -1.06
- CADD 9.45
- PolyPhen-2 0.17
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available