S2T (p.Ser2Thr) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
S2T (p.Ser2Thr) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
S2T (p.Ser2Thr) variant details
- p.Ser2Thr
- gnomAD 4-69096524-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0782
- REVEL 0.02
- MetaLR 0.13
- MetaSVM -1.00
- CADD 3.72
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available