L82P (p.Leu82Pro) variant of PMP22 (Peripheral myelin protein 22)
L82P (p.Leu82Pro) 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, type I; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
L82P (p.Leu82Pro) variant details
- p.Leu82Pro
- rs878853113
- ClinGen CA10581428
- ClinVar RCV000224582
- ClinVar RCV001050263
- Conflicting interpretations
- Charcot-Marie-Tooth disease, type I; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- AlphaMissense 0.94
- MetaLR 0.80
- MetaSVM 0.72
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.68
- ClinVar: Conflicting classifications of pathogenicity (Charcot-Marie-Tooth disease, type I; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)