A46V (p.Ala46Val) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
A46V (p.Ala46Val) 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 BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; Crigler-Najjar syndrome t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
A46V (p.Ala46Val) variant details
- p.Ala46Val
- rs886044683
- ClinGen CA10607055
- ClinVar RCV000386459
- ClinVar RCV002504027
- Uncertain significance
- BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; Crigler-Najjar syndrome t
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.09
- CADD 0.83
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; Crigler-N)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available