L11F (p.Leu11Phe) variant of SPG7 (Q9UQ90)
L11F (p.Leu11Phe) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
L11F (p.Leu11Phe) variant details
- p.Leu11Phe
- TOPMed rs1206986382
- gnomAD rs1206986382
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- CADD 17.10
- PolyPhen-2 0.11
- SIFT 0.02
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available