R157W (p.Arg157Trp) variant of PMP22 (Peripheral myelin protein 22)
R157W (p.Arg157Trp) 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; Charcot-Marie-Tooth disease, type I; Hereditary lia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R157W (p.Arg157Trp) variant details
- p.Arg157Trp
- rs28936682
- ClinGen CA119628
- NCI-TCGA Cosmic COSV5660
- cosmic curated COSV56601
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease, type I; Hereditary lia
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.91
- AlphaMissense 0.90
- MetaLR 0.94
- MetaSVM 1.08
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease, type I)
- EBI: Pathogenic (in DSS)
- UniProt: Pathogenic (in DSS)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease. (PMID 10211478)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)