L78P (p.Leu78Pro) variant of PMP22 (Peripheral myelin protein 22)
L78P (p.Leu78Pro) 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 specified; 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.
L78P (p.Leu78Pro) variant details
- p.Leu78Pro
- rs1555565276
- ClinGen CA398268114
- ClinVar RCV000498886
- ClinVar RCV000518311
- Conflicting interpretations
- Charcot-Marie-Tooth disease, type I; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- AlphaMissense 0.89
- MetaLR 0.82
- MetaSVM 0.77
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Conflicting classifications of pathogenicity (Charcot-Marie-Tooth disease, type I; not specified; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)