G395A (p.Gly395Ala) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
G395A (p.Gly395Ala) 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 Lucey-Driscoll syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G395A (p.Gly395Ala) variant details
- p.Gly395Ala
- 1000Genomes rs367897068
- ESP rs367897068
- ExAC rs367897068
- TOPMed rs367897068
- Likely pathogenic
- Lucey-Driscoll syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.41
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.24
- ClinVar: Likely pathogenic (Lucey-Driscoll syndrome)
- EBI: Pathogenic (in CN1)
- UniProt: Pathogenic (in CN1)
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available