A403V (p.Ala403Val) variant of SLC2A1 (P11166)
A403V (p.Ala403Val) 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 0.80 / 1. The record also includes structural context.
A403V (p.Ala403Val) variant details
- p.Ala403Val
- rs1643441873
- ClinGen CA339953801
- ClinVar RCV003063972
- Ensembl rs1643441873
- Pathogenic
- GLUT1 deficiency syndrome 1, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- AlphaMissense 0.91
- MetaLR 0.73
- MetaSVM 0.65
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.83
- ClinVar: Pathogenic (GLUT1 deficiency syndrome 1, autosomal recessive)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available