S143W (p.Ser143Trp) variant of GALT (P07902)
S143W (p.Ser143Trp) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.71 / 1. The record also includes published literature and structural context.
S143W (p.Ser143Trp) variant details
- p.Ser143Trp
- rs111033697
- ClinGen CA373280774
- ClinVar RCV001377737
- ESP rs111033697
- Pathogenic/Likely pathogenic
- Galactosemia; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- AlphaMissense 0.18
- MetaLR 0.96
- MetaSVM 1.20
- PolyPhen-2 0.82
- SIFT 0.02
- EVE 0.44
- ClinVar: Pathogenic/Likely pathogenic (Galactosemia; Deficiency of UDPglucose-hexose-1-phosphate uridyl)
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)