H51R (p.His51Arg) variant of PMP22 (Peripheral myelin protein 22)
H51R (p.His51Arg) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease, type I; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
H51R (p.His51Arg) variant details
- p.His51Arg
- rs368908933
- ClinGen CA337251
- ClinVar RCV000762229
- ClinVar RCV001087677
- Conflicting interpretations
- Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease, type I; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.21
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Conflicting classifications of pathogenicity (Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease, type I)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:GIH population (allele frequency 0.035)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)