C85W (p.Cys85Trp) variant of PMP22 (Peripheral myelin protein 22)
C85W (p.Cys85Trp) 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 Inborn genetic diseases; Hereditary liability to pressure palsies; Guillain-Barr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
C85W (p.Cys85Trp) variant details
- p.Cys85Trp
- rs755701957
- ClinGen CA288098333
- ClinVar RCV000638175
- ClinVar RCV000857020
- Uncertain significance
- Inborn genetic diseases; Hereditary liability to pressure palsies; Guillain-Barr
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.59
- AlphaMissense 0.68
- MetaLR 0.76
- MetaSVM 0.53
- CADD 24.50
- PolyPhen-2 0.94
- ClinVar: Uncertain significance (Inborn genetic diseases; Hereditary liability to pressure palsie)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 0.00018)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Hereditary Neuropathy with Liability to Pressure Palsies. (PMID 20301566)