L87P (p.Leu87Pro) variant of PMP22 (Peripheral myelin protein 22)
L87P (p.Leu87Pro) 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 not provided; Dejerine-Sottas disease; Roussy-Lévy syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
L87P (p.Leu87Pro) variant details
- p.Leu87Pro
- rs1907114176
- ClinGen CA398267949
- ClinVar RCV001093239
- ClinVar RCV004546600
- Uncertain significance
- not provided; Dejerine-Sottas disease; Roussy-Lévy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Uncertain significance (not provided; Dejerine-Sottas disease; Roussy-Lévy syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Hereditary Neuropathy with Liability to Pressure Palsies. (PMID 20301566)