T23M (p.Thr23Met) variant of PMP22 (Peripheral myelin protein 22)
T23M (p.Thr23Met) 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; Charcot-Marie-Tooth disease, type IA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
T23M (p.Thr23Met) variant details
- p.Thr23Met
- rs906563423
- ClinGen CA288109902
- ClinVar RCV002995929
- ClinVar RCV003989144
- Uncertain significance
- Charcot-Marie-Tooth disease, type I; Charcot-Marie-Tooth disease, type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.80
- AlphaMissense 0.98
- MetaLR 0.83
- MetaSVM 0.78
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease, type I; Charcot-Marie-Tooth disease)
- EBI: Likely pathogenic (in CMT1E)
- UniProt: Likely pathogenic (in CMT1E)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)