L11R (p.Leu11Arg) variant of PMP22 (Peripheral myelin protein 22)
L11R (p.Leu11Arg) 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, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
L11R (p.Leu11Arg) variant details
- p.Leu11Arg
- rs1567719334
- ClinGen CA398271736
- ClinVar RCV000685969
- Ensembl rs1567719334
- Uncertain significance
- Charcot-Marie-Tooth disease, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- AlphaMissense 0.97
- MetaLR 0.74
- MetaSVM 0.44
- PolyPhen-2 0.93
- SIFT 0.00
- EVE 0.88
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease, type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)