S42N (p.Ser42Asn) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
S42N (p.Ser42Asn) 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 UGT1A1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S42N (p.Ser42Asn) variant details
- p.Ser42Asn
- rs533404227
- ClinGen CA2179778
- ClinVar RCV004539526
- 1000Genomes rs533404227
- Uncertain significance
- UGT1A1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.23
- CADD 22.90
- PolyPhen-2 0.90
- SIFT 0.01
- ClinVar: Uncertain significance (UGT1A1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available