E58K (p.Glu58Lys) variant of GALT (P07902)
E58K (p.Glu58Lys) in GALT (P07902) 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 0.93 / 1. The record also includes published literature and structural context.
E58K (p.Glu58Lys) variant details
- p.Glu58Lys
- rs1554709147
- ClinGen CA373278670
- ClinVar RCV000589593
- ClinVar RCV001276261
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.93
- AlphaMissense 0.77
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.76
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)