L62R (p.Leu62Arg) variant of PMP22 (Peripheral myelin protein 22)
L62R (p.Leu62Arg) 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 specified; Charcot-Marie-Tooth disease, type I; Guillain-Barre syndrome, fam. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
L62R (p.Leu62Arg) variant details
- p.Leu62Arg
- rs756046682
- ClinGen CA334283
- ClinVar RCV000168113
- ClinVar RCV000765330
- Uncertain significance
- not specified; Charcot-Marie-Tooth disease, type I; Guillain-Barre syndrome, fam
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.93
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (not specified; Charcot-Marie-Tooth disease, type I; Guillain-Bar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Hereditary Neuropathy with Liability to Pressure Palsies. (PMID 20301566)