W28R (p.Trp28Arg) variant of PMP22 (Peripheral myelin protein 22)
W28R (p.Trp28Arg) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Charcot-Marie-Tooth disease, type I; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
W28R (p.Trp28Arg) variant details
- p.Trp28Arg
- rs104894626
- ClinGen CA342724
- ClinVar RCV000023072
- ClinVar RCV002512924
- Likely pathogenic
- Charcot-Marie-Tooth disease, type I; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.946
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.16
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Likely pathogenic (Charcot-Marie-Tooth disease, type I; not provided)
- EBI: Pathogenic (in CMT1E)
- UniProt: Pathogenic (in CMT1E)
- Structural context available
- Cited in: Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. (PMID 11835375)
- Cited in: A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. (PMID 10330345)