R9C (p.Arg9Cys) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
R9C (p.Arg9Cys) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Crigler-Najjar syndrome; Lucey-Driscoll syndrome; Gilbert syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
R9C (p.Arg9Cys) variant details
- p.Arg9Cys
- rs370790922
- ClinGen CA2179761
- cosmic curated COSV59389
- ClinVar RCV001137542
- Uncertain significance
- Crigler-Najjar syndrome; Lucey-Driscoll syndrome; Gilbert syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0941
- REVEL 0.09
- CADD 5.26
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Uncertain significance (Crigler-Najjar syndrome; Lucey-Driscoll syndrome; Gilbert syndro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available