L5M (p.Leu5Met) variant of SPG7 (Q9UQ90)
L5M (p.Leu5Met) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
L5M (p.Leu5Met) variant details
- p.Leu5Met
- gnomAD 16-89508430-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0675
- CADD 1.78
- PolyPhen-2 0.14
- SIFT 0.13
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available