D36N (p.Asp36Asn) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
D36N (p.Asp36Asn) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CN1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
D36N (p.Asp36Asn) variant details
- p.Asp36Asn
- rs1697429657
- UniProt VAR 071402
- Ensembl rs1697429657
- Pathogenic
- in CN1
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.53
- CADD 27.50
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Pathogenic (in CN1)
- UniProt: Pathogenic (in CN1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Cited in: UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias. (PMID 23992562)
- Cited in: Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and… (PMID 11013440)