M420T (p.Met420Thr) variant of SLC2A1 (P11166)
M420T (p.Met420Thr) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of GLUT1 deficiency syndrome 1, autosomal recessive; Seizure. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes structural context.
M420T (p.Met420Thr) variant details
- p.Met420Thr
- rs2124446220
- ClinGen CA339953646
- ClinVar RCV001988848
- ClinVar RCV005624499
- Pathogenic/Likely pathogenic
- GLUT1 deficiency syndrome 1, autosomal recessive; Seizure
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- AlphaMissense 0.62
- MetaLR 0.38
- MetaSVM -0.30
- PolyPhen-2 0.24
- SIFT 0.00
- EVE 0.79
- ClinVar: Pathogenic/Likely pathogenic (GLUT1 deficiency syndrome 1, autosomal recessive; Seizure)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available