T89N (p.Thr89Asn) variant of PMP22 (Peripheral myelin protein 22)
T89N (p.Thr89Asn) 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; Hereditary liability to pressure palsies. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
T89N (p.Thr89Asn) variant details
- p.Thr89Asn
- rs189205303
- ClinGen CA288098306
- ClinVar RCV001122568
- ClinVar RCV001122569
- Uncertain significance
- Charcot-Marie-Tooth disease, type I; Hereditary liability to pressure palsies
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.52
- CADD 23.80
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease, type I; Hereditary liability to pre)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Hereditary Neuropathy with Liability to Pressure Palsies. (PMID 20301566)