W28C (p.Trp28Cys) variant of PMP22 (Peripheral myelin protein 22)
W28C (p.Trp28Cys) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
W28C (p.Trp28Cys) variant details
- p.Trp28Cys
- rs1442525908
- ClinGen CA398271186
- cosmic curated COSV56603
- ClinVar RCV001027475
- Uncertain significance
- Charcot-Marie-Tooth disease, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.87
- CADD 29.00
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease, type I)
- EBI: Variant of uncertain significance (in CMT1E)
- UniProt: Uncertain significance (in CMT1E)
- 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)