P211S (p.Pro211Ser) variant of SLC2A1 (P11166)
P211S (p.Pro211Ser) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes structural context.
P211S (p.Pro211Ser) variant details
- p.Pro211Ser
- rs796053247
- ClinGen CA318431
- ClinVar RCV000189354
- ClinVar RCV001365001
- Pathogenic/Likely pathogenic
- GLUT1 deficiency syndrome 1, autosomal recessive; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- AlphaMissense 0.98
- MetaLR 0.84
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Pathogenic/Likely pathogenic (GLUT1 deficiency syndrome 1, autosomal recessive; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available