T68I (p.Thr68Ile) variant of PMP22 (Peripheral myelin protein 22)
T68I (p.Thr68Ile) 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 Inborn genetic diseases; Charcot-Marie-Tooth disease, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
T68I (p.Thr68Ile) variant details
- p.Thr68Ile
- rs2150676849
- ClinGen CA398268304
- ClinVar RCV002034891
- NCI-TCGA TCGA novel
- Uncertain significance
- Inborn genetic diseases; Charcot-Marie-Tooth disease, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- AlphaMissense 0.44
- MetaLR 0.65
- MetaSVM 0.55
- PolyPhen-2 0.85
- SIFT 0.46
- EVE 0.18
- ClinVar: Uncertain significance (Inborn genetic diseases; Charcot-Marie-Tooth disease, type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)