T99I (p.Thr99Ile) variant of PMP22 (Peripheral myelin protein 22)
T99I (p.Thr99Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
T99I (p.Thr99Ile) variant details
- p.Thr99Ile
- rs1467889270
- ClinGen CA398267441
- ClinVar RCV003012182
- gnomAD rs1467889270
- Uncertain significance
- Charcot-Marie-Tooth disease, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.93
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease, type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)