L31R (p.Leu31Arg) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
L31R (p.Leu31Arg) 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 type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
L31R (p.Leu31Arg) variant details
- p.Leu31Arg
- rs2472933388
- ClinGen CA351065551
- ClinVar RCV004547369
- Uncertain significance
- Crigler-Najjar syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.90
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Crigler-Najjar syndrome type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available