G93A (p.Gly93Ala) variant of PMP22 (Peripheral myelin protein 22)
G93A (p.Gly93Ala) 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 not specified; Charcot-Marie-Tooth disease, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G93A (p.Gly93Ala) variant details
- p.Gly93Ala
- rs757021177
- ClinGen CA8403372
- ClinVar RCV002994167
- ClinVar RCV003493974
- Uncertain significance
- not specified; Charcot-Marie-Tooth disease, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.87
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not specified; Charcot-Marie-Tooth disease, type I)
- EBI: Variant of uncertain significance (in CMT1A)
- UniProt: Uncertain significance (in CMT1A)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)