I74M (p.Ile74Met) variant of PMP22 (Peripheral myelin protein 22)
I74M (p.Ile74Met) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
I74M (p.Ile74Met) variant details
- p.Ile74Met
- gnomAD 17-15239568-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.79
- CADD 24.70
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available