P58L (p.Pro58Leu) variant of PMP22 (Peripheral myelin protein 22)
P58L (p.Pro58Leu) 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.
P58L (p.Pro58Leu) variant details
- p.Pro58Leu
- gnomAD 17-15239546-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- CADD 9.96
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available