V17M (p.Val17Met) variant of PMP22 (Peripheral myelin protein 22)
V17M (p.Val17Met) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
V17M (p.Val17Met) variant details
- p.Val17Met
- TOPMed rs929552332
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.67
- CADD 28.40
- PolyPhen-2 0.86
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 3.4e-05)
- Structural context available