L82F (p.Leu82Phe) variant of PMP22 (Peripheral myelin protein 22)
L82F (p.Leu82Phe) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L82F (p.Leu82Phe) variant details
- p.Leu82Phe
- rs925414870
- gnomAD 17-15239529-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 10.10
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available