L6P (p.Leu6Pro) variant of SPG7 (Q9UQ90)
L6P (p.Leu6Pro) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L6P (p.Leu6Pro) variant details
- p.Leu6Pro
- gnomAD 16-89508434-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available