V25I (p.Val25Ile) variant of PMP22 (Peripheral myelin protein 22)
V25I (p.Val25Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
V25I (p.Val25Ile) variant details
- p.Val25Ile
- rs2508226786
- ClinGen CA398271660
- ClinVar RCV002285781
- ClinVar RCV005096047
- Uncertain significance
- Charcot-Marie-Tooth disease, type I; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.50
- CADD 24.80
- PolyPhen-2 0.74
- SIFT 0.17
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease, type I; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)