H12Q (p.His12Gln) variant of PMP22 (Peripheral myelin protein 22)
H12Q (p.His12Gln) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; Charcot-Marie-Tooth disease, type I; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
H12Q (p.His12Gln) variant details
- p.His12Gln
- rs104894622
- ClinGen CA398271729
- ClinVar RCV002900303
- UniProt VAR 006359
- Pathogenic
- Inborn genetic diseases; Charcot-Marie-Tooth disease, type I; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.74
- CADD 24.20
- PolyPhen-2 0.38
- SIFT 0.00
- ClinVar: Pathogenic (Charcot-Marie-Tooth disease, type I)
- EBI: Pathogenic (in DSS)
- UniProt: Pathogenic (in DSS)
- Population evidence available
- Structural context available
- Cited in: Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation. (PMID 7728152)
- Cited in: The hypertrophic forms of hereditary motor and sensory neuropathy. A study of hypertrophic Charcot-Marie-Tooth disease… (PMID 3467805)