G28A (p.Gly28Ala) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
G28A (p.Gly28Ala) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G28A (p.Gly28Ala) variant details
- p.Gly28Ala
- gnomAD rs1337235315
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.30
- CADD 23.00
- PolyPhen-2 0.56
- SIFT 0.03
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available