R13W (p.Arg13Trp) variant of SPG7 (Q9UQ90)
R13W (p.Arg13Trp) in SPG7 (Q9UQ90) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary spastic paraplegia 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R13W (p.Arg13Trp) variant details
- p.Arg13Trp
- TOPMed rs923197967
- gnomAD rs923197967
- Uncertain significance
- not provided; Hereditary spastic paraplegia 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- CADD 22.70
- PolyPhen-2 0.18
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Hereditary spastic paraplegia 7)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available