G21A (p.Gly21Ala) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
G21A (p.Gly21Ala) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
G21A (p.Gly21Ala) variant details
- p.Gly21Ala
- gnomAD 4-69096582-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.04
- MetaLR 0.10
- MetaSVM -1.04
- CADD 17.60
- PolyPhen-2 0.98
- SIFT 0.50
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available