G93E (p.Gly93Glu) variant of PMP22 (Peripheral myelin protein 22)
G93E (p.Gly93Glu) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G93E (p.Gly93Glu) variant details
- p.Gly93Glu
- gnomAD 17-15239512-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.90
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available