P417Q (p.Pro417Gln) variant of SLC2A2 (P11168)
P417Q (p.Pro417Gln) 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 0.86 / 1. The record also includes structural context.
P417Q (p.Pro417Gln) variant details
- p.Pro417Gln
- rs121909744
- ClinGen CA355485915
- ClinVar RCV003631668
- Uncertain significance
- Fanconi-Bickel syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- AlphaMissense 0.70
- MetaLR 0.81
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Uncertain significance (Fanconi-Bickel syndrome)
- EBI: Variant of uncertain significance (in FBS)
- UniProt: Uncertain significance (in FBS)
- Structural context available