G119R (p.Gly119Arg) variant of SLC2A2 (P11168)
G119R (p.Gly119Arg) in SLC2A2 (P11168) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi-Bickel syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
G119R (p.Gly119Arg) variant details
- p.Gly119Arg
- rs2473915944
- ClinGen CA355492542
- ClinVar RCV003518745
- Uncertain significance
- Fanconi-Bickel syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.67
- CADD 23.90
- PolyPhen-2 0.88
- SIFT 0.06
- ClinVar: Uncertain significance (Fanconi-Bickel syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available