S2Y (p.Ser2Tyr) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
S2Y (p.Ser2Tyr) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
S2Y (p.Ser2Tyr) variant details
- p.Ser2Tyr
- gnomAD rs1719231203
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.07
- MetaLR 0.24
- MetaSVM -0.87
- CADD 19.30
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available