G93R (p.Gly93Arg) variant of PMP22 (Peripheral myelin protein 22)
G93R (p.Gly93Arg) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G93R (p.Gly93Arg) variant details
- p.Gly93Arg
- rs778693173
- ExAC rs778693173
- TOPMed rs778693173
- gnomAD rs778693173
- Uncertain significance
- Charcot-Marie-Tooth disease, type I; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.92
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease, type I; not provided)
- EBI: Pathogenic (in CMT1A)
- UniProt: Pathogenic (in CMT1A)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: [A case of hereditary motor and sensory neuropathy type I with a new type of peripheral myelin protein (PMP)-22… (PMID 8777804)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)