G21A (p.Gly21Ala) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
G21A (p.Gly21Ala) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
G21A (p.Gly21Ala) variant details
- p.Gly21Ala
- gnomAD 2-233760349-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.06
- CADD 5.78
- PolyPhen-2 0.03
- SIFT 0.37
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available