L11R (p.Leu11Arg) variant of SPG7 (Q9UQ90)
L11R (p.Leu11Arg) in SPG7 (Q9UQ90) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
L11R (p.Leu11Arg) variant details
- p.Leu11Arg
- TOPMed rs943187212
- gnomAD rs943187212
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available