S20T (p.Ser20Thr) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
S20T (p.Ser20Thr) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S20T (p.Ser20Thr) variant details
- p.Ser20Thr
- gnomAD 4-69096578-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.02
- MetaLR 0.18
- MetaSVM -0.89
- CADD 1.06
- PolyPhen-2 0.38
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available