G130C (p.Gly130Cys) variant of SLC2A1 (P11166)
G130C (p.Gly130Cys) 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 0.93 / 1. The record also includes structural context.
G130C (p.Gly130Cys) variant details
- p.Gly130Cys
- rs80359819
- ClinGen CA339960920
- ClinVar RCV001871273
- Ensembl rs80359819
- Pathogenic
- GLUT1 deficiency syndrome 1, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.932
- AlphaMissense 0.99
- MetaLR 0.90
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic (GLUT1 deficiency syndrome 1, autosomal recessive)
- EBI: Pathogenic (in GLUT1DS1)
- UniProt: Pathogenic (in GLUT1DS1)
- Structural context available