V165I (p.Val165Ile) variant of SLC2A1 (P11166)
V165I (p.Val165Ile) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; GLUT1 deficiency syndrome 1, autosomal recessive; Childhood onset. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
V165I (p.Val165Ile) variant details
- p.Val165Ile
- rs1057520545
- ClinGen CA16603717
- ClinVar RCV000429855
- ClinVar RCV001865327
- Pathogenic
- not provided; GLUT1 deficiency syndrome 1, autosomal recessive; Childhood onset
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- AlphaMissense 0.51
- MetaLR 0.44
- MetaSVM 0.00
- PolyPhen-2 0.94
- SIFT 0.02
- EVE 0.44
- ClinVar: Pathogenic (not provided; GLUT1 deficiency syndrome 1, autosomal recessive;)
- EBI: Pathogenic (in GLUT1DS2)
- UniProt: Pathogenic (in GLUT1DS2)
- Structural context available
- Cited in: Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a… (PMID 20621801)
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)