G150C (p.Gly150Cys) variant of PMP22 (Peripheral myelin protein 22)
G150C (p.Gly150Cys) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Charcot-Marie-Tooth disease, type I; not provided; Dejerine-Sottas disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
G150C (p.Gly150Cys) variant details
- p.Gly150Cys
- rs104894624
- ClinGen CA119624
- ClinVar RCV000008954
- ClinVar RCV000594940
- Conflicting interpretations
- Charcot-Marie-Tooth disease, type I; not provided; Dejerine-Sottas disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.54
- ClinVar: Conflicting classifications of pathogenicity (Charcot-Marie-Tooth disease, type I; not provided)
- EBI: Pathogenic (in DSS)
- UniProt: Pathogenic (in DSS)
- Structural context available
- Cited in: Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease. (PMID 9544841)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)