L19P (p.Leu19Pro) variant of PMP22 (Peripheral myelin protein 22)
L19P (p.Leu19Pro) 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 Dejerine-Sottas disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
L19P (p.Leu19Pro) variant details
- p.Leu19Pro
- rs1597635666
- ClinGen CA398271694
- ClinVar RCV000789525
- TOPMed rs1597635666
- Uncertain significance
- Dejerine-Sottas disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.92
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Dejerine-Sottas disease)
- EBI: Pathogenic (in DSS)
- UniProt: Pathogenic (in DSS)
- Population evidence available
- Structural context available
- Cited in: Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies. (PMID 9888385)
- Cited in: Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease. (PMID 10211478)