R49T (p.Arg49Thr) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
R49T (p.Arg49Thr) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. 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.
R49T (p.Arg49Thr) variant details
- p.Arg49Thr
- gnomAD rs1402048109
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.24
- MetaLR 0.54
- MetaSVM -0.37
- CADD 22.80
- PolyPhen-2 0.84
- SIFT 0.28
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available