F84F (p.Phe84Phe) variant of PMP22 (Peripheral myelin protein 22)
F84F (p.Phe84Phe) in PMP22 (Peripheral myelin protein 22) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
F84F (p.Phe84Phe) variant details
- p.Phe84Phe
- gnomAD 17-15239538-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.446
- CADD 12.60
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available