H12R (p.His12Arg) variant of PMP22 (Peripheral myelin protein 22)
H12R (p.His12Arg) 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 not provided; Charcot-Marie-Tooth disease, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
H12R (p.His12Arg) variant details
- p.His12Arg
- rs1909248652
- ClinGen CA398271731
- ClinVar RCV001036010
- ClinVar RCV001548774
- Pathogenic
- not provided; Charcot-Marie-Tooth disease, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- AlphaMissense 0.99
- MetaLR 0.63
- MetaSVM 0.04
- PolyPhen-2 0.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic (not provided; Charcot-Marie-Tooth disease, type I)
- EBI: Pathogenic (in DSS)
- UniProt: Pathogenic (in DSS)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)