R11H (p.Arg11His) variant of SLC2A1 (P11166)
R11H (p.Arg11His) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; GLUT1 deficiency syndrome 1, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R11H (p.Arg11His) variant details
- p.Arg11His
- rs150921182
- ClinGen CA803638
- ClinVar RCV001926297
- ClinVar RCV005642666
- Uncertain significance
- not provided; GLUT1 deficiency syndrome 1, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.15
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.56
- ClinVar: Uncertain significance (not provided; GLUT1 deficiency syndrome 1, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available