S45P (p.Ser45Pro) variant of GALT (P07902)
S45P (p.Ser45Pro) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
S45P (p.Ser45Pro) variant details
- p.Ser45Pro
- rs2132341560
- ClinGen CA373278586
- ClinVar RCV001802722
- Ensembl rs2132341560
- Likely pathogenic
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.97
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Likely pathogenic (Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase)
- EBI: Likely pathogenic (in GALAC1)
- UniProt: Likely 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)