G33E (p.Gly33Glu) variant of PMP22 (Peripheral myelin protein 22)
G33E (p.Gly33Glu) 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 Charcot-Marie-Tooth disease, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G33E (p.Gly33Glu) variant details
- p.Gly33Glu
- rs754175558
- ClinGen CA8403431
- ClinVar RCV001237650
- ExAC rs754175558
- Uncertain significance
- Charcot-Marie-Tooth disease, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.22
- CADD 15.30
- PolyPhen-2 0.02
- SIFT 0.97
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease, type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)