D44G (p.Asp44Gly) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
D44G (p.Asp44Gly) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
D44G (p.Asp44Gly) variant details
- p.Asp44Gly
- NCI-TCGA Cosmic COSV5944
- cosmic curated COSV59442
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.24
- MetaLR 0.35
- MetaSVM -0.64
- CADD 20.80
- PolyPhen-2 0.42
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available