R49G (p.Arg49Gly) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
R49G (p.Arg49Gly) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R49G (p.Arg49Gly) variant details
- p.Arg49Gly
- ESP rs148671766
- ExAC rs148671766
- gnomAD rs148671766
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.29
- MetaLR 0.50
- MetaSVM -0.34
- CADD 23.70
- PolyPhen-2 0.78
- SIFT 0.26
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available