P387R (p.Pro387Arg) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
P387R (p.Pro387Arg) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Gilbert syndrome; BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; Crigler. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
P387R (p.Pro387Arg) variant details
- p.Pro387Arg
- rs1559415403
- ClinGen CA913189479
- ClinVar RCV000733308
- ClinVar RCV004737991
- Likely pathogenic
- Gilbert syndrome; BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; Crigler
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.89
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Gilbert syndrome; BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT)
- EBI: Likely pathogenic (in CN1)
- UniProt: Likely pathogenic (in CN1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available