V65I (p.Val65Ile) variant of PMP22 (Peripheral myelin protein 22)
V65I (p.Val65Ile) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
V65I (p.Val65Ile) variant details
- p.Val65Ile
- rs779700333
- gnomAD 17-15239544-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- CADD 10.60
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available
- Literature evidence available