I123M (p.Ile123Met) variant of SLC2A1 (P11166)
I123M (p.Ile123Met) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes structural context.
I123M (p.Ile123Met) variant details
- p.Ile123Met
- rs1478488524
- ClinGen CA339961002
- ClinVar RCV001593884
- TOPMed rs1478488524
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- AlphaMissense 0.25
- MetaLR 0.55
- MetaSVM 0.14
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.42
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available