R9G (p.Arg9Gly) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
R9G (p.Arg9Gly) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
R9G (p.Arg9Gly) variant details
- p.Arg9Gly
- ESP rs370790922
- ExAC rs370790922
- TOPMed rs370790922
- gnomAD rs370790922
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.082
- REVEL 0.09
- CADD 1.41
- PolyPhen-2 0.03
- SIFT 0.34
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available