L38P (p.Leu38Pro) variant of PMP22 (Peripheral myelin protein 22)
L38P (p.Leu38Pro) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
L38P (p.Leu38Pro) variant details
- p.Leu38Pro
- rs1234608261
- ClinGen CA398271050
- ClinVar RCV001904101
- TOPMed rs1234608261
- Uncertain significance
- Charcot-Marie-Tooth disease, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.95
- CADD 29.40
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease, type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)