M1R (p.Met1Arg) variant of SLC2A2 (P11168)
M1R (p.Met1Arg) in SLC2A2 (P11168) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Fanconi-Bickel syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs1716716102
- ClinGen CA355481286
- ClinVar RCV001843322
- Pathogenic
- Fanconi-Bickel syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- MetaLR 0.54
- MetaSVM 0.13
- PolyPhen-2 0.73
- SIFT 0.00
- MutPred 0.98
- ClinVar: Pathogenic (Fanconi-Bickel syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available