L80R (p.Leu80Arg) variant of PMP22 (Peripheral myelin protein 22)
L80R (p.Leu80Arg) 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 0.87 / 1. The record also includes published literature and structural context.
L80R (p.Leu80Arg) variant details
- p.Leu80Arg
- rs1597607967
- ClinGen CA398268079
- ClinVar RCV000790155
- Ensembl rs1597607967
- Uncertain significance
- Dejerine-Sottas disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- AlphaMissense 0.98
- MetaLR 0.85
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Uncertain significance (Dejerine-Sottas disease)
- EBI: Pathogenic (in DSS)
- UniProt: Pathogenic (in DSS)
- Structural context available
- Cited in: Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25… (PMID 12090401)
- Cited in: Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease. (PMID 10211478)