L4M (p.Leu4Met) variant of SPG7 (Q9UQ90)
L4M (p.Leu4Met) 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.
L4M (p.Leu4Met) variant details
- p.Leu4Met
- gnomAD 16-89508427-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.074
- CADD 2.73
- PolyPhen-2 0.00
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available