G37D (p.Gly37Asp) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
G37D (p.Gly37Asp) 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 Crigler-Najjar syndrome, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes structural context.
G37D (p.Gly37Asp) variant details
- p.Gly37Asp
- rs780016114
- ClinGen CA351065654
- ClinVar RCV003443186
- ExAC rs780016114
- Uncertain significance
- Crigler-Najjar syndrome, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- AlphaMissense 0.57
- MetaLR 0.41
- MetaSVM -0.45
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.44
- ClinVar: Uncertain significance (Crigler-Najjar syndrome, type II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available