V65F (p.Val65Phe) variant of PMP22 (Peripheral myelin protein 22)
V65F (p.Val65Phe) 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 0.88 / 1. The record also includes published literature and structural context.
V65F (p.Val65Phe) variant details
- p.Val65Phe
- rs1597608152
- ClinGen CA398268368
- ClinVar RCV000790157
- Ensembl rs1597608152
- Uncertain significance
- Charcot-Marie-Tooth disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- AlphaMissense 0.97
- MetaLR 0.88
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.73
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease)
- EBI: Pathogenic (in CMT1A)
- UniProt: Pathogenic (in CMT1A)
- Structural context available
- Cited in: Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1. (PMID 12497641)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)