L6Q (p.Leu6Gln) variant of SPG7 (Q9UQ90)
L6Q (p.Leu6Gln) in SPG7 (Q9UQ90) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L6Q (p.Leu6Gln) variant details
- p.Leu6Gln
- gnomAD rs1352999079
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- CADD 22.90
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available