S222N (p.Ser222Asn) variant of GALT (P07902)
S222N (p.Ser222Asn) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
S222N (p.Ser222Asn) variant details
- p.Ser222Asn
- rs2132344327
- ClinGen CA373282300
- ClinVar RCV003610683
- Pathogenic
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- AlphaMissense 0.13
- MetaLR 0.85
- MetaSVM 0.50
- PolyPhen-2 0.01
- SIFT 0.04
- EVE 0.08
- ClinVar: Pathogenic (Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)