I70L (p.Ile70Leu) variant of PMP22 (Peripheral myelin protein 22)
I70L (p.Ile70Leu) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
I70L (p.Ile70Leu) variant details
- p.Ile70Leu
- Ensembl rs1907129282
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.79
- CADD 25.00
- PolyPhen-2 0.50
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available