L16P (p.Leu16Pro) variant of PMP22 (Peripheral myelin protein 22)
L16P (p.Leu16Pro) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Charcot-Marie-Tooth disease, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
L16P (p.Leu16Pro) variant details
- p.Leu16Pro
- rs104894617
- ClinGen CA340784
- ClinVar RCV000008940
- ClinVar RCV000685070
- Pathogenic
- Charcot-Marie-Tooth disease, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.80
- CADD 32.00
- PolyPhen-2 0.80
- SIFT 0.01
- ClinVar: Pathogenic (Charcot-Marie-Tooth disease, type I)
- EBI: Pathogenic (in CMT1A and DSS)
- UniProt: Pathogenic (in CMT1A and DSS)
- Population evidence available
- 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: Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. (PMID 1303281)