G48E (p.Gly48Glu) variant of PMP22 (Peripheral myelin protein 22)
G48E (p.Gly48Glu) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
G48E (p.Gly48Glu) variant details
- p.Gly48Glu
- NCI-TCGA Cosmic COSV5660
- cosmic curated COSV56602
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available