V140M (p.Val140Met) variant of SLC2A1 (P11166)
V140M (p.Val140Met) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Encephalopathy due to GLUT1 deficiency; not provided; GLUT1 deficiency syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
V140M (p.Val140Met) variant details
- p.Val140Met
- rs1057517822
- ClinGen CA16042396
- ClinVar RCV000414747
- ClinVar RCV001850982
- Pathogenic
- Encephalopathy due to GLUT1 deficiency; not provided; GLUT1 deficiency syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.82
- AlphaMissense 0.84
- MetaLR 0.67
- MetaSVM 0.53
- CADD 25.50
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Encephalopathy due to GLUT1 deficiency; not provided; GLUT1 defi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)