T23K (p.Thr23Lys) variant of PMP22 (Peripheral myelin protein 22)
T23K (p.Thr23Lys) 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, type IA; Charcot-Marie-Tooth disease, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
T23K (p.Thr23Lys) variant details
- p.Thr23Lys
- rs906563423
- ClinGen CA288109904
- ClinVar RCV002039305
- ClinVar RCV005409841
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth disease, type IA; Charcot-Marie-Tooth disease, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- AlphaMissense 0.98
- MetaLR 0.83
- MetaSVM 0.78
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-Tooth disease, type IA; Charcot-Marie-Tooth diseas)
- EBI: Pathogenic (in CMT1E)
- UniProt: Pathogenic (in CMT1E)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)