G20D (p.Gly20Asp) variant of SLC2A2 (P11168)
G20D (p.Gly20Asp) in SLC2A2 (P11168) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Fanconi-Bickel syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G20D (p.Gly20Asp) variant details
- p.Gly20Asp
- rs761992056
- ClinGen CA2702775
- ClinVar RCV003324353
- ExAC rs761992056
- Likely pathogenic
- Fanconi-Bickel syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.60
- CADD 23.10
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (Fanconi-Bickel syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available