D44H (p.Asp44His) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
D44H (p.Asp44His) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
D44H (p.Asp44His) variant details
- p.Asp44His
- gnomAD 4-69096650-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.15
- MetaLR 0.23
- MetaSVM -0.82
- CADD 21.20
- PolyPhen-2 0.71
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available