F96L (p.Phe96Leu) variant of PMP22 (Peripheral myelin protein 22)
F96L (p.Phe96Leu) 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 and structural context.
F96L (p.Phe96Leu) variant details
- p.Phe96Leu
- cosmic curated COSV10039
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.89
- CADD 29.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available