I372N (p.Ile372Asn) variant of SLC2A1 (P11166)
I372N (p.Ile372Asn) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of GLUT1 deficiency syndrome 1, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes structural context.
I372N (p.Ile372Asn) variant details
- p.Ile372Asn
- rs1643443081
- ClinGen CA339954230
- ClinVar RCV001240060
- Ensembl rs1643443081
- Pathogenic
- GLUT1 deficiency syndrome 1, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- AlphaMissense 0.92
- MetaLR 0.73
- MetaSVM 0.71
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic (GLUT1 deficiency syndrome 1, autosomal recessive)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available