L78M (p.Leu78Met) variant of PMP22 (Peripheral myelin protein 22)
L78M (p.Leu78Met) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
L78M (p.Leu78Met) variant details
- p.Leu78Met
- ExAC rs766656618
- gnomAD rs766656618
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.41
- CADD 23.80
- PolyPhen-2 0.87
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available