V65L (p.Val65Leu) variant of PMP22 (Peripheral myelin protein 22)
V65L (p.Val65Leu) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
V65L (p.Val65Leu) variant details
- p.Val65Leu
- rs769945527
- gnomAD 17-15239550-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- CADD 9.35
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available