G416S (p.Gly416Ser) variant of SLC2A2 (P11168)
G416S (p.Gly416Ser) 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 0.70 / 1. The record also includes structural context.
G416S (p.Gly416Ser) variant details
- p.Gly416Ser
- rs1553785033
- ClinGen CA355485922
- ClinVar RCV000513671
- TOPMed rs1553785033
- Likely pathogenic
- Fanconi-Bickel syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- AlphaMissense 0.62
- MetaLR 0.73
- MetaSVM 0.46
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.53
- ClinVar: Likely pathogenic (Fanconi-Bickel syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available