R9S (p.Arg9Ser) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
R9S (p.Arg9Ser) 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.
R9S (p.Arg9Ser) variant details
- p.Arg9Ser
- ESP rs370790922
- ExAC rs370790922
- TOPMed rs370790922
- gnomAD rs370790922
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0777
- REVEL 0.09
- CADD 0.70
- PolyPhen-2 0.00
- SIFT 0.44
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available