P211L (p.Pro211Leu) variant of SLC2A1 (P11166)
P211L (p.Pro211Leu) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of GLUT1 deficiency syndrome 1, autosomal recessive; Childhood onset GLUT1 deficien. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
P211L (p.Pro211Leu) variant details
- p.Pro211Leu
- rs2124449306
- ClinGen CA339958546
- ClinVar RCV001959468
- ClinVar RCV005868501
- Uncertain significance
- GLUT1 deficiency syndrome 1, autosomal recessive; Childhood onset GLUT1 deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- AlphaMissense 0.98
- MetaLR 0.80
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Uncertain significance (GLUT1 deficiency syndrome 1, autosomal recessive; Childhood onse)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)