G100R (p.Gly100Arg) variant of PMP22 (Peripheral myelin protein 22)
G100R (p.Gly100Arg) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Dejerine-Sottas disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
G100R (p.Gly100Arg) variant details
- p.Gly100Arg
- rs1597607651
- ClinGen CA398267436
- ClinVar RCV000790144
- Ensembl rs1597607651
- Pathogenic
- Dejerine-Sottas disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.76
- ClinVar: Pathogenic (Dejerine-Sottas disease)
- EBI: Pathogenic (in DSS)
- UniProt: Pathogenic (in DSS)
- Structural context available
- Cited in: Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease… (PMID 9187667)
- Cited in: Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease. (PMID 10211478)