V25G (p.Val25Gly) variant of PMP22 (Peripheral myelin protein 22)
V25G (p.Val25Gly) 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; not provided; Hereditary liability to press. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
V25G (p.Val25Gly) variant details
- p.Val25Gly
- rs765741053
- ClinGen CA8403451
- ClinVar RCV001123656
- ClinVar RCV001123657
- Uncertain significance
- Charcot-Marie-Tooth disease, type I; not provided; Hereditary liability to press
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.61
- CADD 26.20
- PolyPhen-2 0.78
- SIFT 0.31
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease, type I; not provided; Hereditary li)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Hereditary Neuropathy with Liability to Pressure Palsies. (PMID 20301566)