G419D (p.Gly419Asp) variant of SLC2A1 (P11166)
G419D (p.Gly419Asp) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; GLUT1 deficiency syndrome 1, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
G419D (p.Gly419Asp) variant details
- p.Gly419Asp
- rs139722450
- ClinGen CA339953651
- ClinVar RCV001218801
- ESP rs139722450
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; GLUT1 deficiency syndrome 1, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- AlphaMissense 0.99
- MetaLR 0.81
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; GLUT1 deficiency syndrome 1, autosomal)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available