G100E (p.Gly100Glu) variant of PMP22 (Peripheral myelin protein 22)
G100E (p.Gly100Glu) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dejerine-Sottas disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
G100E (p.Gly100Glu) variant details
- p.Gly100Glu
- rs1597607638
- ClinGen CA398267432
- ClinVar RCV000789516
- Ensembl rs1597607638
- Uncertain significance
- Dejerine-Sottas disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.72
- ClinVar: Uncertain significance (Dejerine-Sottas disease)
- EBI: Pathogenic (in DSS)
- UniProt: Pathogenic (in DSS)
- Structural context available
- Cited in: Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible "hot spot" on Ser72. (PMID 9585367)
- Cited in: Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease. (PMID 10211478)