G94S (p.Gly94Ser) variant of PMP22 (Peripheral myelin protein 22)
G94S (p.Gly94Ser) 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 provided; Charcot-Marie-Tooth disease, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
G94S (p.Gly94Ser) variant details
- p.Gly94Ser
- rs1335714957
- ClinGen CA398267486
- cosmic curated COSV56602
- ClinVar RCV003233171
- Uncertain significance
- not provided; Charcot-Marie-Tooth disease, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.62
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.08
- ClinVar: Uncertain significance (not provided; Charcot-Marie-Tooth disease, type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)