W40R (p.Trp40Arg) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
W40R (p.Trp40Arg) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
W40R (p.Trp40Arg) variant details
- p.Trp40Arg
- rs1183811071
- ClinGen CA351065698
- ClinVar RCV003555022
- TOPMed rs1183811071
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.77
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available