S72W (p.Ser72Trp) variant of PMP22 (Peripheral myelin protein 22)
S72W (p.Ser72Trp) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.91 / 1. The record also includes published literature and structural context.
S72W (p.Ser72Trp) variant details
- p.Ser72Trp
- rs104894621
- ClinGen CA398268231
- ClinVar RCV000790174
- ClinVar RCV000802360
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth disease, type I; not provided; Dejerine-Sottas disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-Tooth disease, type I; not provided; Dejerine-Sott)
- EBI: Pathogenic (in DSS)
- UniProt: Pathogenic (in DSS)
- Structural context available
- Cited in: Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome. (PMID 9055797)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)