L18R (p.Leu18Arg) variant of PMP22 (Peripheral myelin protein 22)
L18R (p.Leu18Arg) 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 Charcot-Marie-Tooth disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
L18R (p.Leu18Arg) variant details
- p.Leu18Arg
- rs1597635677
- ClinGen CA398271697
- ClinVar RCV000789514
- Ensembl rs1597635677
- Uncertain significance
- Charcot-Marie-Tooth disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- AlphaMissense 0.98
- MetaLR 0.75
- MetaSVM 0.45
- PolyPhen-2 0.76
- SIFT 0.00
- EVE 0.85
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)