G20C (p.Gly20Cys) variant of SLC2A2 (P11168)
G20C (p.Gly20Cys) 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 0.31 / 1. The record also includes population frequency data and structural context.
G20C (p.Gly20Cys) variant details
- p.Gly20Cys
- rs2108262047
- ClinGen CA355480664
- ClinVar RCV001940222
- Ensembl rs2108262047
- Uncertain significance
- Fanconi-Bickel syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.40
- CADD 16.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Fanconi-Bickel syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available