T23R (p.Thr23Arg) variant of PMP22 (Peripheral myelin protein 22)
T23R (p.Thr23Arg) 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 not provided; Charcot-Marie-Tooth disease, type I; Charcot-Marie-Tooth disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
T23R (p.Thr23Arg) variant details
- p.Thr23Arg
- rs906563423
- ClinGen CA16615515
- ClinVar RCV000471834
- ClinVar RCV000789510
- Pathogenic/Likely pathogenic
- not provided; Charcot-Marie-Tooth disease, type I; Charcot-Marie-Tooth disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.85
- AlphaMissense 0.98
- MetaLR 0.83
- MetaSVM 0.78
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Charcot-Marie-Tooth disease, type I; Charcot-Marie)
- EBI: Pathogenic (in CMT1E)
- UniProt: Pathogenic (in CMT1E)
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available
- Cited in: A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with… (PMID 15099592)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)