A67P (p.Ala67Pro) variant of PMP22 (Peripheral myelin protein 22)
A67P (p.Ala67Pro) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Charcot-Marie-Tooth disease, type I; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
A67P (p.Ala67Pro) variant details
- p.Ala67Pro
- rs104894623
- ClinGen CA340786
- ClinVar RCV000008951
- ClinVar RCV000992662
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth disease, type I; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- AlphaMissense 0.99
- MetaLR 0.88
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-Tooth disease, type I; not provided)
- EBI: Pathogenic (in CMT1E)
- UniProt: Pathogenic (in CMT1E)
- Structural context available
- Cited in: A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. (PMID 10330345)
- Cited in: Charcot-Marie-Tooth disease with sensorineural hearing loss--an autosomal dominant trait. (PMID 7139106)