L147R (p.Leu147Arg) variant of PMP22 (Peripheral myelin protein 22)
L147R (p.Leu147Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
L147R (p.Leu147Arg) variant details
- p.Leu147Arg
- rs1597597445
- ClinGen CA398739522
- ClinVar RCV000789523
- Ensembl rs1597597445
- Uncertain significance
- Charcot-Marie-Tooth disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- AlphaMissense 0.97
- MetaLR 0.81
- MetaSVM 0.75
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.84
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease)
- EBI: Pathogenic (in CMT1A)
- UniProt: Pathogenic (in CMT1A)
- Structural context available
- Cited in: Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth… (PMID 10737979)
- Cited in: A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe de novo Charcot-Marie-Tooth… (PMID 8655153)