I98L (p.Ile98Leu) variant of PMP22 (Peripheral myelin protein 22)
I98L (p.Ile98Leu) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
I98L (p.Ile98Leu) variant details
- p.Ile98Leu
- ExAC rs748778392
- gnomAD rs748778392
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.20
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available