L87V (p.Leu87Val) variant of PMP22 (Peripheral myelin protein 22)
L87V (p.Leu87Val) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
L87V (p.Leu87Val) variant details
- p.Leu87Val
- gnomAD 17-15239531-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.87
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available