G8R (p.Gly8Arg) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
G8R (p.Gly8Arg) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
G8R (p.Gly8Arg) variant details
- p.Gly8Arg
- rs749552053
- ClinGen CA2179759
- cosmic curated COSV10736
- ClinVar RCV000733748
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0669
- REVEL 0.05
- CADD 0.14
- PolyPhen-2 0.01
- SIFT 0.47
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)