S45L (p.Ser45Leu) variant of GALT (P07902)
S45L (p.Ser45Leu) in GALT (P07902) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in GALAC1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
S45L (p.Ser45Leu) variant details
- p.Ser45Leu
- rs111033652
- ClinGen CA220416
- ClinVar RCV000078214
- ClinVar RCV001851992
- Pathogenic
- in GALAC1
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.99
- AlphaMissense 0.53
- MetaLR 0.97
- MetaSVM 1.12
- CADD 31.00
- PolyPhen-2 0.62
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Population evidence available
- Structural context available
- Cited in: Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. (PMID 10408771)
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)