G37V (p.Gly37Val) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
G37V (p.Gly37Val) 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.
G37V (p.Gly37Val) variant details
- p.Gly37Val
- rs780016114
- ClinGen CA2179776
- ClinVar RCV003555021
- ExAC rs780016114
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.56
- AlphaMissense 0.57
- MetaLR 0.41
- MetaSVM -0.45
- CADD 25.50
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available