L71P (p.Leu71Pro) variant of PMP22 (Peripheral myelin protein 22)
L71P (p.Leu71Pro) 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 0.90 / 1. The record also includes published literature and structural context.
L71P (p.Leu71Pro) variant details
- p.Leu71Pro
- rs940401899
- ClinGen CA398268247
- ClinVar RCV000790143
- TOPMed rs940401899
- Uncertain significance
- Dejerine-Sottas disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Uncertain significance (Dejerine-Sottas disease)
- EBI: Pathogenic (in DSS)
- UniProt: Pathogenic (in DSS)
- Structural context available
- Cited in: Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. (PMID 11835375)
- Cited in: Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease. (PMID 10211478)