L11V (p.Leu11Val) variant of PMP22 (Peripheral myelin protein 22)
L11V (p.Leu11Val) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
L11V (p.Leu11Val) variant details
- p.Leu11Val
- gnomAD rs1214377627
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.34
- CADD 24.70
- PolyPhen-2 0.36
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available