L3V (p.Leu3Val) variant of PMP22 (Peripheral myelin protein 22)
L3V (p.Leu3Val) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L3V (p.Leu3Val) variant details
- p.Leu3Val
- gnomAD rs1240600731
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.31
- CADD 21.60
- PolyPhen-2 0.22
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available