D36G (p.Asp36Gly) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
D36G (p.Asp36Gly) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
D36G (p.Asp36Gly) variant details
- p.Asp36Gly
- rs1244863017
- ClinGen CA351065635
- ClinVar RCV003120145
- TOPMed rs1244863017
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.47
- CADD 25.30
- PolyPhen-2 0.65
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in CN1)
- UniProt: Uncertain significance (in CN1)
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available