G395V (p.Gly395Val) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
G395V (p.Gly395Val) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Crigler-Najjar syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
G395V (p.Gly395Val) variant details
- p.Gly395Val
- rs367897068
- ClinGen CA2180025
- cosmic curated COSV59387
- ClinVar RCV003229499
- Pathogenic
- Crigler-Najjar syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.73
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Crigler-Najjar syndrome)
- EBI: Pathogenic (in CN1)
- UniProt: Pathogenic (in CN1)
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and… (PMID 15712364)
- Cited in: Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia. (PMID 17229650)