S20C (p.Ser20Cys) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
S20C (p.Ser20Cys) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
S20C (p.Ser20Cys) variant details
- p.Ser20Cys
- gnomAD 4-69096579-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.09
- MetaLR 0.14
- MetaSVM -0.97
- CADD 13.30
- PolyPhen-2 0.98
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available