S5C (p.Ser5Cys) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
S5C (p.Ser5Cys) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
S5C (p.Ser5Cys) variant details
- p.Ser5Cys
- TOPMed rs1697391714
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.03
- CADD 0.97
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available