F81L (p.Phe81Leu) variant of PMP22 (Peripheral myelin protein 22)
F81L (p.Phe81Leu) 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, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
F81L (p.Phe81Leu) variant details
- p.Phe81Leu
- rs748551014
- ClinGen CA8403377
- ClinVar RCV002015256
- ExAC rs748551014
- Uncertain significance
- Charcot-Marie-Tooth disease, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.55
- CADD 23.10
- PolyPhen-2 0.67
- SIFT 1.00
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease, type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)