F88S (p.Phe88Ser) variant of PMP22 (Peripheral myelin protein 22)
F88S (p.Phe88Ser) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
F88S (p.Phe88Ser) variant details
- p.Phe88Ser
- gnomAD 17-15239527-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.88
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available