L4R (p.Leu4Arg) variant of SPG7 (Q9UQ90)
L4R (p.Leu4Arg) 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 0.13 / 1. The record also includes population frequency data and structural context.
L4R (p.Leu4Arg) variant details
- p.Leu4Arg
- TOPMed rs2057958357
- gnomAD rs2057958357
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- CADD 10.40
- PolyPhen-2 0.04
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available