W39C (p.Trp39Cys) variant of PMP22 (Peripheral myelin protein 22)
W39C (p.Trp39Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
W39C (p.Trp39Cys) variant details
- p.Trp39Cys
- rs797044846
- ClinGen CA347450
- ClinVar RCV000195195
- ClinVar RCV000790172
- Uncertain significance
- Charcot-Marie-Tooth disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)