S5A (p.Ser5Ala) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
S5A (p.Ser5Ala) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
S5A (p.Ser5Ala) variant details
- p.Ser5Ala
- gnomAD rs1271688129
- Missense
- Variant Prioritization Score for Impact Estimate 0.106
- REVEL 0.07
- CADD 1.96
- PolyPhen-2 0.00
- SIFT 0.60
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available