W412G (p.Trp412Gly) variant of SLC2A1 (P11166)
W412G (p.Trp412Gly) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Encephalopathy due to GLUT1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
W412G (p.Trp412Gly) variant details
- p.Trp412Gly
- rs1570590859
- ClinGen CA339953701
- ClinVar RCV000995643
- Ensembl rs1570590859
- Likely pathogenic
- Encephalopathy due to GLUT1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- AlphaMissense 0.97
- MetaLR 0.80
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Likely pathogenic (Encephalopathy due to GLUT1 deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)