E363K (p.Glu363Lys) variant of GALT (P07902)
E363K (p.Glu363Lys) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Galactosemia; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
E363K (p.Glu363Lys) variant details
- p.Glu363Lys
- rs367543273
- ClinGen CA261032
- ClinVar RCV000032014
- Ensembl rs367543273
- Likely pathogenic
- Galactosemia; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.80
- AlphaMissense 0.09
- MetaLR 0.86
- MetaSVM 0.41
- CADD 26.30
- PolyPhen-2 0.04
- ClinVar: Likely pathogenic (Galactosemia; Deficiency of UDPglucose-hexose-1-phosphate uridyl)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)