T62I (p.Thr62Ile) variant of SLC2A1 (P11166)
T62I (p.Thr62Ile) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of GLUT1 deficiency syndrome 1, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes structural context.
T62I (p.Thr62Ile) variant details
- p.Thr62Ile
- rs1643485004
- ClinGen CA339962155
- ClinVar RCV001316126
- Ensembl rs1643485004
- Uncertain significance
- GLUT1 deficiency syndrome 1, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- AlphaMissense 0.32
- MetaLR 0.49
- MetaSVM 0.10
- PolyPhen-2 0.56
- SIFT 0.05
- EVE 0.52
- ClinVar: Uncertain significance (GLUT1 deficiency syndrome 1, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available